Nebula Genomics Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome!

Living with XXY founder Ryan Bregante shares his personal experience with the condition and the impact of his organization on the community.

Cardio Genetic Counselor, YouTuber, and Patient Advocate Izzy Kornblau shares her expertise in Ehlers-Danlos Syndromes, she has personally been diagnosed with hypermobile EDS.

Exploring the “Genomic Wallet” to have our genetic information accessible with Igentify’s CEO, Doron Behar.

Marinus Pharmaceuticals’ Vice President in Clinical Development shares his insight on TSC including the status of the clinical trial.

Drs. Eric Green, Julian Barwell, and Fiona Brinkman discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.

Genetic Counselors Catherine Mayo and Kira Dineen discuss this year’s NSGC conference in Chicago including their favorite sessions. 

Exploring the human element of report writing and interpretation and report writing of genetic testing with genetic counselors Meena Mahey Kumar and Laura Fuqua. 

We are sharing the first episode of a new 5 part CRISPR podcast series, A CRISPR Bite.

Genetic counselors, Tiana Rogers and Nira Johnson get personal about their experience with burnout.

Genetic counselors, Tiana Rogers and Nira Johnson get personal about their experience with burnout.

Episode drop of It Happened To Me with parents of a child with Bardet Biedl Syndrome, a rare disease affecting vision, obesity, extra fingers/toes and other symptoms.

Rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell, join us to talk about inborn errors of immunity including chronic granulomatous disease.

DNA Today’s Communication Lead, Corinne Merlino, shares about her rare congenital birth defect that affects craniofacial development and how it influenced her to become a genetic counselor.

Drs. Anjali Shastri and Ruth Tennen, of 23andMe, explore an important issue in healthcare, diversifying genetic research with a focus on sickle cell disease.

We are celebrating the 250th episode of DNA Today and the 10 year anniversary of Orphan Black premiere with Madeline Ashby who was a writer for Orphan Black: The Next Chapter.

Genetic counselors, John Zimmerman and Daniel Riconda, explore the experience of being males in the field.

Researchers, Dr. Aimée Dudley and Dr. Andrea Gropman, and patient advocate, Tresa Warner, discuss the most common urea cycle disorder.

Dr. John Day and genetic counselor Carly Siskind discuss Duchenne Muscular Dystrophy and exon skipping therapeutics.

Advice focused on the personal statement of the on genetic counseling program applications. Featuring incoming grad students Corinne Merlino and Maya Patel, recorded in NBC’s Stamford Studios!

Advice on genetic counseling program applications with incoming grad students Corinne Merlino and Maya Patel, recorded in NBC’s Stamford Studios!

Step into our time machine to the genetic counseling field in the 70s with Virginia Corson.

Pride month discussion with genetic counselors Dr. Jehannine Austin, Andy Cantor Katie Gallagher, Jo Giblin, and Kira Dineen.

Dr. Richard Wenzel shares about his experience learning that his father was not his genetic father and commentary on how healthcare providers should disclose results to patients.

“You are (not) the father!” NBC’s Maury Povich joins us for a discussion on paternity testing.

Sneha Dave, Founder and Executive Director of Generation Patient, discusses her experience as a young adult patient advocate for ulcerative colitis.

Genetic Counselor Janice Berliner shares about her second genetics novel, “In Good Conscience”.

Genetic testing secondary findings and a study exploring what they mean for the patients who receive them. Learn more in this 30 minute podcast episode with a patient advocate and an expert from the NIH.

Australian cancer genetic counselor, Michelle Bowman discusses utilizing digital tools to reach patients who can benefit from cancer genetic counseling.

Genetic Counselor Susan Hanh shares new risk assessment advances like Quests tests and Patient Advocate Rebecca Chopp shares about her diagnosis and experience.

If you are one of the listeners that tune into DNA Today every week, then you definitely know by now we have launched our Patreon. This is where you can not only get bonus content from DNA Today, you can get early access to episodes before the public. You also get to influence the content of the show, this includes episode topics and guests plus pitching questions I ask during interviews, and of course I will give you a shoutout when I ask your question. Oh and if you sign up by May 25th you get a bonus physical gift! For these benefits and more you can visit our Patreon, link is in the show notes and on our website DNAToday.com.We are continuing our peek into the past! Last episode

Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania!&nbsp;Check out DNA Today Episode #101, Genetic Counseling Match Day, to prepare you to start grad school. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their <a href="https://www.etsy.com/listing/1194791760/genetic-counseling-complete-stud

We are officially launching our Patreon next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day (April 25th) so you can celebrate our genetics holiday by becoming one of our first patrons then!&nbsp;As a prenatal genetic counselor, our host, Kira Dineen, is

We are thrilled to be launching our Patreon very soon. It might be on a genetics holiday, I’ll let you figure that one out. In the meantime we would appreciate your insight on what you want from the Patreon. It’s your last chance to fill out our survey so that we will offer the benefits you want. You can access the 60 second survey here. Maybe you really want DNA Today merch or would love to have one on one mentorship with me. Maybe you have your own idea! Whatever your thoughts are, get them in by April 21st, 2023! Thanks for helping to develop our Patreon.&nbsp;On this episode, genetic counselor and entrepreneur, Matt Tschirgi, shares insights he has learned from running his own company and a survey he sent out to fellow entrepreneurs in the field.&nbsp;<p cla

Have you heard? We are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have an exciting list of ideas on what we will offer you listeners, but we want you to make the final decisions on which benefits we end up offering you. So get your votes in through our survey. It only takes 60 seconds to fill out. Thank you SO much!!In this episode, we explore the intersection of artificial intelligence (AI) and genetics, focusing on the potential impact of AI policies and regulations on the field. Why do our show notes look different this week? We decided to stay on brand for this episode and use AI (shoutout

As you may have heard, we are launching a Patreon! For those that don’t know what Patreon is, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have a survey that will be open for a limited time so get your input in now so we can provide the benefits you want. Maybe that’s a one-on-one Zoom with me for mentorship or a genetics book/movie club or an appearance on the podcast! Let us know so we can make sure to offer it. Thanks for all your support for the podcast over the years.&nbsp;My guest today is Dr. Jamie Fettig, the Founder and CEO of TruGene Diagnostics. We are chatting about a breakthrough in eliminating variants of unknown significance - especially&nbsp; in relation to companion diagnostic t

We have an exciting announcement, we are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. In order to provide what YOU want, please take 60 seconds to fill out our survey. By filling out the survey not only are you influencing what benefits we will offer, but you will be the first to know when we will launch! Can’t thank you all enough for your listenership over the years, it’s such a privilege to be able to launch a Patreon to engage with you all more.&nbsp;This week we’re chatting about an emerging area of genetics, pharmacogenomics! <a href="https://nigms.nih.gov/edu

Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations.Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation.

In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne.Dr. Louise Rodino-Klapac is the Executive Vice President, Head of R&amp;D and Chief Scientific Officer at Sarepta Therapeutics who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy!<p class="" style

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode!&nbsp;Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to h

Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne’s Senior Director of Medical Affairs.Jennifer Hoskovec, MS, CGC,&nbsp; joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenata

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT!&nbsp;Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan

Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.DNA Today’s host Kira Dineen is also one of the hosts of the <a href="https://ph

We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan, which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior.&nbsp;Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate

In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode!Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research f

This week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of&nbsp; biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts.Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more!Under the biotech division, Maxwerk’s team of multidisciplinary scientists are working to develop novel and innovative biotechnology products for diagnostic and therapeutic applications.

A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me.&nbsp;In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories.&nbsp;Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful l

Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy.&nbsp;Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Cent

Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene.&nbsp;Mike Graglia has always worked on complicated problems – he can’t help himself.&nbsp; So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps &amp; grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation.&nbsp; His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.<p class="" style="white-space:pre-

Nicka Smith (she/her), a pro genealogist with over 20 years of experience, joins DNA Today for our second to last episode of the year! She is the host of BlackProGen LIVE, a web series focused on genealogy and family history with a special focus on people of color.&nbsp;Nicka Smith is a professional photographer, speaker, host, consultant, and documentarian with more than 20 years of experience as a genealogist. She has extensive experience in African ancestored genealogy, reverse genealogy, and is expert in genealogical research in the Northeastern Louisiana area, and researching enslaved communities. Nicka has diverse and varied experience in media with a background in audio, video, and written communications. She’s appeared on TODAY Show, CNN, MSNBC, on the series Who Do

Our guest today is Dahlia Attia-King, Founder and CEO of Panacea. Panacea’s mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health.&nbsp;Dahlia’s education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barriers and was inspired to create a solution. Dahlia and her co-founders founded Panacea with a mission to increase access to c

Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The <a href="https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fr20.rs6.net%2Ftn.jsp%3Ff%3D001_HHy_JNMy3hTBCzSllhRRLOeXBcAcUtJY70V4maoTbalC2KRWVAoXPlrturmsoTirf47QDZ0q9-pXTUMhLJ5QaS_ABXYArmvrbAxGH0BCU0D_XV9GJRx--a4Kl-Is_pZwNvj0bH5phVqe3dD2dCUp9CYPyCodsSv_OWdpSkqpkw%3D%26c%3DGVs8aAUlCZJRW23huu6jGOFhBZ-gfYWrWN400ArRN4HoLgxHo774iA%3D%3D%26ch%3DmnDxpxUYJF7-EH9UpIfK6waXLUK8___SgpTo1SQcRZRioiYPk_Sa9A%3D%3D&amp;data=04%7C01%7Calaw9%40jhmi.edu%7Cb51ef4329b414a5bcaec08d956a005fd%7C9fa4f438b1e6473b803f86f8aedf0dec%7C0%7C0%7C637636067573089803%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiL

It’s December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing.&nbsp;For those that don’t follow us on social media @DNATodayPodcast, here are this year’s highlights…So far this year we have produced 1,747 minutes of new content, that’s nearly 30 straight hours. And it’s more than 98% of other science podcasts.&nbsp;We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around

We are recapping and reflecting on the National Society of Genetic Counselors 41st Annual conference, which was just held in Nashville. Some attendees joined in virtually and others, like myself, joined in person. It was incredible to meet so many of you listeners. I am already looking forward to NSGC 2023 in Chicago in October. If I didn’t get a chance to say hi to you, or you couldn’t attend the conference, email me at [email protected]. I’d love to connect and also add you to our email newsletter so you can stay updated on DNA Today.&nbsp;Oh and don’t forget to enter our giveaway from last episode for one of 5 copies of the Genome Defense. You can enter on our social media on Twitter

Our guest in this episode is Jorge Contreras, author of The Genome Defense. In this riveting, behind-the-scenes courtroom drama, a brilliant legal team battles corporate greed and government overreach for the fundamental right to control our genes.We’re giving away 5 copies of The Genome Defense, so be sure to check out our social media accounts for the giveaway details. If you don’t win, you can get a copy here. When you buy a copy of the book, half of the proceeds are donated to FORCE, an organization that strives to improve the lives of individuals and families facing hereditary cancer. You can learn more about the book on Contreras’ website, genomedefense.org</a

After two years of virtual NSGC conferences, I can’t wait to see many of you in Nashville next week! Say “hi” if you see me! If you want to be featured in our NSGC recap episodes, let me know. I would love to capture your impression of the conference to feature on the episode. Maybe you will get DNA Today merch in exchange… I will be spending a lot of time in the exhibit hall, so look for me there.&nbsp;As some of you may know our host, Kira Dineen, is a prenatal genetic counselor! Today’s episode topic is something that she talks about every day, family history in reproductive medicine! Joining us for this discussion is Dr. Tristan Hardy who is a dual-trained obstetrician/gynecologist and genetic pathologist with a particular focus on reproductive genetics.<p class="" style="white-space:

When our host, Kira Dineen, began her career as a genetic counselor she was mostly starting from scratch because the private practice she works at hadn’t had a genetic counselor in two years. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. As a brand new genetic counselor, it was hard for Kira to figure out what the important aspects of genetic testing were, so she wanted to dive into what makes a quality genetic test in this episode. We’re joined by two experts from Blueprint Genetics, Dr. Kirsty Wells and Rachel Goldberg, MS, CGC for this episode!Dr. Wells is a Senior Geneticist and Team

In 2012, the 100,000 Genomes Project was announced, the same year we started this podcast!Back in 2015 we did an episode about the 100,000 Genomes Project so we’re excited to revisit this massive project today with Dr. Julian Barwell, who is a clinical geneticist and has countless titles but today’s most relevant one is the operational clinical lead of the 100,000 Genome project.After finishing his Clinical Genetics training (2001-2007) at Guy's, St George's and the Royal Marsden from the University of London; Dr. Barwell started as a consultant in Clinical Genetics in Leicester. He runs

As some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person.&nbsp;The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where I picked his brain about nano-rare diseases. He is a scientist, physician, entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people wit

Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today!Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics. Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate

Y’all YOU made it happen. DNA Today won the Best 2022 Science &amp; Medicine Podcast Award! We are honored to defend our title for the THIRD year in a row. Thank you listeners! An astonishing 5.7 MILLION people voted in the Podcast Awards this year, so it truly took each and every one of you for DNA Today to win. This was perfect timing to close out September which marked a decade of DNA Today and our 200th episode. Huge shoutout to our sponsors who make this show possible! I was able to mention a few during the acceptance speech, but I wish I had time to highlight all 40+. Listeners make you check out our Sponsors page for all the details. Anyway, I want to thank my team for so much hard work. Thank you to Corinne Merlino, Amanda Andreoli, Kajal Patel, Sanya Tinaikar, Ash Enokian, and

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to [email protected] and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)&nbsp;<p class="

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my <a href="https://www.linkedin.com/feed/update/urn:li:activit

Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.We’re joined by genetic counselor, ​​Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from <a href="http://dnapodcast.com/episodes/2022/3/25/177-whole-genome-sequencing-with-perki

It’s Sickle Cell Awareness month, so we are sharing this episode of Lifting the Veilpodcast where Beveraly Mills and Elaine Buck interview our host, Kira Dineen, about the condition!On Lifting the Veil, Beverly and Elaine cover, and uncover, the truth about African-American history. Misconceptions, lies, skewed facts, and untruths about the African-American narrative get straightened out here, once and for all.On This Episode We Discuss:Health disparities specifically in black community<p class="" style="white-

This is a milestone episode for two reasons. As you may have noticed, it’s our 200th episode. Technically we had about 20 episodes prior to numbering them, but these are mini lessons and not really full episodes. These started when we were broadcasting live from WHUS 91.7 FM.The other milestone is that September 1st marks 10 years of DNA Today. We released our first episode in 2012. Back then our host and producer, Kira Dineen, was starting her senior year of high school, fast forward a decade and now she has her masters in genetics and has been practicing as a genetic counselor for 2 years! As a high schooler she dreamed of reaching people around the world, little did she think she would be producing DNA Today ten years later with two Podcast Awards, ranking in t

We have two special announcements!Next episode we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to [email protected]. Deadline is August 27th.<p class="" style=

We have two special announcements!&nbsp;Very soon we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a 30-60 second voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to [email protected]. Deadline is August 27th.<p

We have two special announcements!Very soon we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to [email protected]. Deadline is August 27th.<p class="" style="wh

This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON).&nbsp;Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1.&nbsp;Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA.&nbsp; Her professional career was devoted to develop

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again!&nbsp;Our guest this week is Dr.Tod Klingler, who is the head of product research and development at Genomic Life. Over his 25-year career, Dr. Klingler has held leadership roles with organizations that have successfully developed and commercialized innovative products includin

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again!&nbsp;This week we’re continuing our Q and A discussion on genetic counseling program apps with Mikayla Stoecker, Founder &amp; CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Be sure to check out part 1 of our Q and A from last week, and if yo

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again!&nbsp;Y’all asked and we answered! Some of our most popular episodes are about the genetic counseling application process, so we are doing a QnA about it in this episode. If you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes <a href="http://dnapodcast.com/episodes/2018/8/3/87-genetic-counseling-grad-school-a

Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.

PodcastAwards.comSelect “DNA Today: A Genetics Podcast” in theScience &amp; Medicine CategoryIf you enjoy our episodes we would really appreciate you nominating us in the Podcast Awards. We are hoping to defend our title as the Best Science and Medicine Podcast! In order to do this, we need YOU listeners to get “DNA Today” nominated at PodcastAwards.com in the “Science in Medicine” category. The nominations are open now and close at the end of the month on July 31st. But don’t wait, do it now so you don’t forget.&nbsp;<p class="" data-rte-preserve-empt

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again!&nbsp;On Friday, June 24th, 2022, the US Supreme Court released its decision in Dobbs v. Jackson Women’s Health Organizationvoting to overturn Roe v. Wade— the 1973 ruling that guaranteed federal constitutional protections of abortion rights.&nbsp;I

Happy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode.DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 20th installment of the PhenoTips’ Speaker Series, “Gender Affirming Care in Genetic Counseling”.<

To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips.The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&amp;A), then it’s released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen!<p class=""

Propionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn.&nbsp;Bryan Kelly is 36 years old and living with propionic acidemia.&nbsp; He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community.&nbsp;Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics

This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society, and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics.June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum, the pre-eminent Web community for resea

We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy.&nbsp;<p class="" data-rt

Joining us this week is Dr. Yael Joffe, Founder and Chief Scientific Officer of 3X4 Genetics, a genetic testing partner for providers that allows them to bring genetic testing into their practice so that they can provide patients with more personalized and DNA-based actionable insights that will help them live better, longer, and healthier lives.&nbsp;Dr. Joffe is also a fellow podcaster! She is the host of The Power of Genetics, a podcast that features inspiring conversations and practical advice from the world’s top expert practitioners at the forefront of the future of health. Dr. Joffe is an expert in the field of nutrigenmoics, starting her career as a dietician before going on to earn her PhD in nutrigenomics from the Univer

In honor of Vision Health Month and Blindness Awareness Month, we are exploring Blueprint Genetics’ My Retina Tracker program with ​​Khalida Liaquat, who is a genetic counselor and the Senior Manager of Genomic Services at Quest Diagnostics. Our other guest is Ariana Lichtenstein, who is the Director of Business development at Blueprint Genetics.&nbsp;Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, they deliver high-quality genetic testing to the global clinical community across 15 medical specialties, with a customer base spanning over 70 countries. By combining a state-of-the-art laboratory process, the latest seque

Last episode (182) we were joined by Dr. Eric Green, the Director of the National Human Genome Research Institute (NHGRI) at the NIH. And we chatted about the recent completion of the human genome. To continue this conversation, I am joined by the co-founders of the Telomere to Telomere Consortium which lead this project!Dr. Karen Miga is an Assistant Professor in Biomolecular Engineering at The University of California, Santa Cruz. She is also the associate director of the UCSC Genomics Institute. The Miga Lab at UCSC focuses on genomic and epigenetic structure within human centromeres and constitutive heterochromatin, which are now emerging to the forefront of genomics. She received a B.S. i

On this week’s episode of DNA Today we’re discussing the past, present, and future of the Human Genome Project and the Telomere to Telomere Consortium with Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH).The Human Genome Project is an international scientific research project that began in 1990, with the goal of determining the base pairs that make up human DNA, and identifying, mapping, and sequencing all of the genes of the human genome; however, no one chromosome has yet been finished end to end, and hundreds of gaps persist across the genome. The Telomere to Telomere (T2T) Consortium is an open, commu

To celebrate DNA Day we are joined by Dr. Stephanie Ryan! In this podcast episode, Dr. Ryan discusses science education and communication, especially making science understandable for kids.&nbsp;To keep the celebrations going we will be co-hosting a virtual event on DNA Day itself, Monday, April 25th at 6pmET! During this special DNA Day event we will do a live DNA experiment with Dr. Stephanie Ryan. You can follow along at home to do the experiment with us! You can register for the event here.Stephanie Ryan, Ph.D. is a chemist, boy mom, and a social media influencer who enjoys using her background in academia to create educational products and content, helping youn

We are excited to share that Kourtney Kardashian recently featured in DNA Today in an article on Poosh, “How Genetics Play the Ultimate Role in Health”. Our host, Kira Dineen, shares insight on genetic counseling and epigenetics.&nbsp;The Chief Medical Officer of Mitera, Dr. Kathy Salari, joins the show. Mitera is a telehealth company that offers a unique care model that uses remote technologies and subspecialty medical oversight to responsibly democratize access to reproductive genetic testing. On this episode, Dr. Salari will be sharing about Mitera’s at-home reproductive genetic testing options including non-invasive prenatal screening and carrier screening.&nbsp;<p class=""

This week we’re bringing you a special episode of DNA Today! Our host, Kira Dineen, was recently a guest on The Science of Everything Podcast, discussing genetic testing with host, James Fodor. Kira thoroughly enjoyed her experience being a guest on this podcast, so we’ve decided to also release the episode on the DNA Today podcast feed!&nbsp;To give you a teaser… we covered a range of genetic testing topics from the process and science behind the testing, types of conditions that can be tested for, and the difference between genotyping and sequencing. We even discussed direct-to-consumer genetic testing like 23andMe and ancestry including the potential (and current) uses for criminal justice. We speculated about social implications of the testing along with other futures that may be in store for gen

Dr. George Emanuel shares about single-cell spacial genomics in this podcast episode. Dr. Emanuel is the Scientific Cofounder and Director of Technology and Partnerships at Vizgen, a biotechnology company that is dedicated to pioneering the next generation of spatially resolved transcriptomics profiling tools to provide new insight into the biological systems that underlie human health and disease.&nbsp;Spatial genomics is a new frontier in molecular biology, which aims to assay the genomic information of single cells within their native tissue environment, combining spatial transcriptomics with single-cell sequencing. This exciting technology was named Nature’s "Method of the Year 2020"!<p class=""

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.&nbsp;Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.<p class="" style="wh

We are ecstatic to introduce this week’s guest, Lauren Potter! You might know Lauren as Becky Jackson from the TV show Glee. She was in all six seasons playing a character who, like her, has Down Syndrome! After graduating high school and attending college in California, Lauren began acting, starring in her first film at the age of 16. In 2012 she was nominated for a SAG award in the Ensemble in a Comedy Series category for her work in Glee, and she also received the SAG/AFTRA Harold Russell Award at the 2012 Media Access AwardsOn top of being a fabulous and successful actress, Lauren is also a fierce advocate. President Obama appointed her to the President’s Committee for People with Intellectual Disabilities. She has advocated with AbilityPath, Best Buddies International, the National Down Syndrome Society, The American Associatio

This week we’re joined by Dr. Brian Shirts to discuss ConnectMyVariant, a service that&nbsp;dedicated to helping patients and families understand unique genetic variants and provides different avenues of informing family, or even people distantly related, of possible inherited risk of diseases like cancer.Dr. Shirts is an Associate Professor of Laboratory Medicine at the University of Washington. His research focuses on integrating complex genetics knowledge into clinical care. His main goal is to help prevent all hereditary cancer. He is currently working to improve strategies to help people with inherited cancer risk connect with close and distant relatives, classify rare variants, and to improve how genetic information is presented to both patients and clinici

This week we’re joined by Gregory Kellog of Fulgent Genetics. In this episode we explore pharmacogenomics.Gregory is the Director of Genetic Counseling at Fulgent Genetics, a technology-based genetic testing company. Prior to serving as the director, Gregory served as the Genetic Counseling Manager at Fulgent, and worked in various roles for other genetic testing companies over the last 7 years including Recombine, Phosphorus, and Illumina. He completed his master of science in human genetics and genetic counseling at Stanford University School of Medicine.On This Episode We Discuss:What is pharmacogenomics?&nbsp;<p class="" style="white-space:

Joining us for the last episode of rare disease month is Keith McArthur. Keith is the co-founder and CEO of CureGRIN, a non profit rare disease organization. He is also a published author and he’s a fellow science podcaster, Unlocking Bryson’s Brain (one of our favorite podcasts!). But most importantly, Keith is the loving father of Bryson, who was diagnosed with a GRIN1 related disorder.Keith McArthur got a second chance at life in 2017 when his little sister donated her kidney for transplant. Now, he writes and podcasts about his journey to becoming happier and healthier. Keith is the creator of My Instruction Manual — a website, podcast, and book series providing high-quality, personal-developmen

DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz.With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas.<p c

In honor of Rare Disease Month we are continuing to highlight different rare diseases. This week we explore Farber Disease with Dr. Alex Solyom, Senior Vice President of Rare Disease Development at Aceragen, and Katie Crosby, is a certified genetic counselor and the Associate Director of Patient Engagement.&nbsp;Dr. Alex Solyom is a pediatrician with real-world expertise in rare diseases, sphingolipid biology, inflammation and pediatric rheumatology. He has over 13 years of clinical and translational research experience, with 8 years in rare disease pharma therapeutic lifecycle development.In his role at Aceragen, he is involved in the strategic planning and execution in clinical and translational research, lifecycle development, medical, scientific and patient affa

To celebrate February as rare disease month we will be interviewing leaders in rare diseases throughout the month! In this episode we explore new research in one of the mitochondrial disorders, primary mitochondrial myopathy (PMM). Joining us for this conversation is Dr. Alejandro Dorenbaum, the Chief Medical Officer of Reneo Pharmaceuticals, who is currently studying an investigational therapy for PMM.&nbsp;Dr. Dorebbaum is a board-certified allergist-immunologist with over 25 years of experience in drug development and clinical trials. Prior to serving as the CMO of Reneo Pharmaceuticals, he served as the Chief Medical Officer of several other pharmaceutical companies, where he achieved proof-of-concept in clinical trials for novel therapeutic antibodies targeting inflammatory cells. He received his medical de

On this week’s episode of DNA Today, we are joined by 2 scientists from Phase Genomics.&nbsp;Dr. Ivan Liachko is the Founder and CEO of Phase Genomics and has worked in the genetic/genomic research field for over 20 years. He has authored over 20 peer reviewed papers and created multiple patents specializing in the field of microbial genomics and synthetic biology. Dr. Liachko is one of the original inventors of the Hi-C assembly and metagenomic deconvolution and has over a decade of experience in scientific management and mentorship. He received his PhD from Cornell University.Our other guest is Dr. Stephen Eacker, VP of Research and Development for Phase Genomics, who is also a lifelong scientist. Prior to starting his role as VP, he served as a Senior Research S

Enter a giveaway on our social media! Win free enrollment to a 3-hour course in the Allelica PRS clinical academy covering the research behind PRS to clinical applications. You can enter by looking for&nbsp; us on Twitter, LinkedIn, and Instagram. This has been posted at 9am on January 21st and will end on February 4th.&nbsp;Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores.&nbsp;Giordano earned a PhD in Public Health and he has extensive experience in analysis of large genomics dataset. During his career he has had the opportunity to work with some of the top genomics experts in the world at the University of Oxford, publishing in the journal Nature.&nbsp;<p cla

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Cancer Genetics”.Thanks to advancements in genome sequencing, physicians are equipped with improved knowledge on the causes of cancer, as well as alternative treatment options for specific cancers. Despite this growing wealth of cancer genomics data, experts remain unclear on how to translate cancer genetics knowledge into realizing precision medicine. To prepare practitioners for the future of cancer genetics, PhenoTips invited Dr. Banu Arun and Dr. Mark Robson to share their in

Spotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts!&nbsp;We also wanted to give a shoutout for a Twitter Spaces conversation Dena Goldberg (Dena DNA) and Kira Dineen co-hosted this past Monday. A bunch of genetic counselors and genetic experts joined us in the live discussion about <

In this week’s episode, our host, Kira Dineen, is joined by Dr. Sandra Balladares to explore utilizing sequencing to assess inherited cancer risk.On This Episode We Discuss:Sandra’s personal experience with breast cancer&nbsp;The difference between Sanger Sequencing and Next Generation SequencingSequencing versus genotypingVarious number of genes on a hereditary cancer panelHow the availability and accessibility of genetic testing differ around the worldDr. Balladares is currently the HLA Typing Franchise Leader at Thermo Fisher Scientific. She formerly held positions at Illumin

This week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research.&nbsp;On This Episode We Discuss:How Parkinson’s Disease (PD) affects the bodyGenes that play a role in the development of PD&nbsp;Genetic testing for family members of patients with PDThe PD GENEration project and how it is helping people with PDUnderrepresentation of Hispanic people in PD genetic research&nbsp;How to achieve more inclusivity with research in the PD space<p class="" style="white-space:

On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome.&nbsp;On This Episode We Discuss:Genetic causes of Prader-Willi Syndrome (PWS)Challenges faced by caregivers of patients with PWSPWS symptom management&nbsp;Harmony Bioscience’s phase 2 clinical study in PWSRequirements for study participationCheck out some commonly asked questions and additional <a href="https://knowrare.com/rare-experiences-list/gina-wagn

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Genetic Counseling”.This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast approaching future of genetic counseling.&nbsp;As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventa

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Adoption and Impact of Digital Tools in Genetic Counseling”.&nbsp;&nbsp;This episode features a panel of genetic counselors, who are digital champions at their respective practices, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools.As genetic testing becomes increasingly common, genetic counselors face increasing demand that they struggle to meet due to low numbers of genetic professionals in clinical care. Supplementing genetic counseling practice wit

Joining us this episode is Dr. Sura Alwan, the Co-Director of TERIS, The Teratogen Information System, a clinical resource that assesses teratogenic risks of pregnancy exposures on the fetus.&nbsp;On This Episode We Discuss:Causes and prevention of birth defects&nbsp;Teratogens&nbsp;Impact of teratogenic exposure on fetal developmentMedications and vaccinations during pregnancyExposure to THC during pregnancyThe TERIS databaseCheck out TERIS, a clinical electronic resou

We are ecstatic to announce that DNA Today won the Best 2021 Science and Medicine Podcast Award. A HUGE thank you to all you listeners who nominated and voted for the show. It is such an honor to win this award two years in a row. As you may recall, this is a People’s Choice Award, so it truly is thanks to your support that we won. It’s been such a fun journey over the last 9 years hosting and producing DNA Today and it’s because of you listeners that we have amazing sponsors who keep the show running. Thank you all again! We have so many more episodes to bring you and we hope you keep tuning to learn more about genetics.&nbsp;In honor of breast cancer awareness month, Kira Dineen is joined by two representatives from Black Cancer Genes, Erika Stallings and Dena Goldberg (aka De

In this episode we are exploring the genetics of ALS with Mark Kiel, the Chief Science Officer and Co-Founder of Genomenon. Genomenon is an AI-driven genomics company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer.&nbsp;Mark Kiel completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he oversees the company’s scientific direction and product development. Mark has extensive experience in genome-sequencing and clinical data analysis.&nbsp;<p class="" style=

The National Society of Genetic Counselors’ (NSGC) 40th annual conference occurred virtually this past week. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. You can also check out our recap episodes of 2020 and 2019.&nbsp;Guests&nbsp;Laura Hercher has been a genetic counselor for nearly two decades. She is also the host of fellow genetics podcast, The Beagle Has Landed. She is a faculty member and director of student research at the <a href=

Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month!Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at C

This episode is an edited recording of the clubhouse meeting Kira Dineen and Dena Goldberg (Dena DNA) hosted on August 26th, 2021 in the “Genetic Counseling and the Future of Healthcare”. We explore making the most of the genetic counseling graduate school experience. Since this was recorded on Clubhouse, the audio is not as high quality as our other episodes.&nbsp;Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to

You did it! DNA Today has been nominated for the Best 2021 Science and Medicine Podcast Award. If you nominated us, check your inbox to see if you were one of the people randomly selected to vote for the show! I was this year and received the email on August 9th. So pause the show now and check to see if you got the email. If you did please go ahead and vote for DNA Today, we need all the votes we can get to defend our title as the best Science and Medicine podcast!&nbsp;This week our host, Kira Dineen, is joined by Kenneth Kovan and Dr. David Berd of BioVaxys, a clinical-stage biopharma company developing antiviral and anticancer vaccine platforms using haptenized viral protein technology.Kenneth K

Did you know genetic changes account for an estimated 10-15% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics just released Picture PD Aware, an at-home DNA kit that tests for changes in seven genes associated with Parkinson’s disease. Picture PD Aware is easy to order and understand with good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit over at picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.&nbsp;Joining our host, Kira Dineen, this week Dr. Dayan Goodenowe. He is the Founder, President, and CEO of <a href="https://prodromescienc

PodcastAwards.comSelect “DNA Today: A Genetics Podcast” in theScience &amp; Medicine CategoryIf you enjoy our episodes we would really appreciate you nominating us in the Podcast Awards. We are hoping to defend our title as the Best Science and Medicine Podcast! In order to do this, we need YOU listeners to get DNA Today nominated at podcastawards.com in the “Science in Medicine” category. The nominations are open now and close at the end of the month on July 31st.&nbsp;The show has been

It’s time to defend our title as the Best 2020 Science and Medicine Podcast! The Podcast Awards Nominations are open! So we need you listeners to get DNA Today nominated at podcastawards.com. We were against very popular podcasts last year, and because of your support we won. To win again, we need all of you to nominate DNA Today in the Science &amp; Medicine category at podcastawards.com by July 31st. If you share your nomination on social media and tag us, we will repost it and give you a shoutout on show! Thank you so much for all your support, let’s win this together!&nbsp;Joining our host, Kira Dineen,

COVID-19 variant genotyping is explored with the Director of the UC Davis Genome Center and Healthy Davis Together project.

This marks the 150th episode of DNA Today! Our guests to celebrate this landmark episode of DNA Today are Dr. Euan Ashley, a medical geneticist and cardiologist. And Dr. Stephen Quake, a physics professor, bioengineer and pioneer in microfluidics.&nbsp;A Scotland native, Dr. Euan Ashley graduated with degrees in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular physiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, and became one of the most cited articles in clinical medicine that year. The t

Sponsoring this cystic fibrosis series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.On the third and final episode of our cystic fibrosis podcast series, our host Kira Dineen is joined by Gunnar Esiason who shares about his experience as a patient with CF. Gunnar is a

Get a shoutout on the podcast by nominating DNA Today for the Quill Podcast Awards for the “Best Health Podcast”. Share your nomination on social media and tag us. In return, we will thank you personally on the show, you can also comment on our posts on Twitter, Facebook, LinkedIn and Instagram. Nominate in this form!&nbsp;<p class="" style="white-space:pre

This episode launches DNA Today’s Cystic Fibrosis Podcast Series! Over the next three episodes of the podcast we will be exploring cystic fibrosis’ history, patient experience and ongoing drug development.&nbsp;Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable gene

DNA Day and Match Day (for genetic counseling grad programs) are only one week away! To celebrate we have two exciting announcements.&nbsp;Announcement #1 Our host Kira Dineen will be live on Instagram with Dena DNA on Saturday April 24th, 2021 at 12pmPT/3pmET to celebrate both genetic holidays. Come with your genetics questions including genetic counseling graduate school questions! Head over to our Instagram for more info (@DNAradio), and maybe a giveaway…&nbsp;Announcement #2 We teamed up with Jackson Laboratories and Million Women Mentors CT to create a resource guide to help students and teachers learn about the importance of genetics in our everyday lives. The guide includes genetics lessons with worksheets to help engage students in genetics. It will be available on Monday April 19th (at DNApodcast.com under the “

Greenwood Genetics Center’s Ray Louie and Kellie Walden join the show to discuss epigenetics.&nbsp;Dr. Ray Louie is an Assistant Director in Greenwood’s Molecular Diagnostic Laboratory. His background is in large scale genetic screening in model organisms and in solid tumor genetics and radiobiology. Dr. Louie is interested in the diagnosis of Mendelian disorders and in the identification of novel genes involved in neurodevelopmental delay and hydrops fetalis.Kellie Walden is Greenwood’s Director of Diagnostic Development and a genetic counselor by training. She oversees areas of growth for the labs including new test offerings and industry contracts. She also continues to be involved in marketing activities for the Diagnostic Lab. Kellie is a member of th

This episode of DNA Today continues our mini series about telehealth in genetics. Last episode we heard from the founder of Advanced Tele-Genetic Counseling, Elizabeth Turner, who shared her expertise in telehealth. Her company provides a scalable telehealth platform for genetic counseling services, where genetic counselors can help patients navigate through areas of genetics like genetic testing, and ultimately understand their own genetics. So if you want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach out through their website at at-gc.com, again that’s at-gc.com.&nbsp;In part two of our telehealth series, Orion Buske, PhD, joins host Kira Dineen to discuss genomic digital tools. Dr. Buske strives to empower patients, doctors, and researchers through new tools and te

To kick off our mini series in telehealth genetics fellow genetic counselor, Elizabeth Turner joins our host Kira Dineen. Elizabeth is the cofounder and Chief Executive Officer of Advanced Tele-Genetic Counseling (AT-GC). Elizabeth’s team, one of the first tele-genetic companies to enter the industry, provides comprehensive genetic counseling services via telemedicine. Elizabeth has practiced in the areas of oncology, pediatrics, reproductive health, and general genetics, and holds a current certification from the American Board of Genetic Counseling.Did you know most people are visual learners? That’s why visual aids are critical during genetic counseling appointments. As we explore in this show, genetic concepts can be really complex to understand, which is why the Greenwoo

Dr. Barbara Fortini joins our host Kira Dineen, to discuss the growing career opportunities in Genomic Data Analytics. She is the Program Director for the Master of Science in Human Genetics and Genomic Data Analytics program at the Keck Graduate Institute. She also teaches their genetic counseling students.&nbsp;Her research interests focus on colorectal cancer, the third most common cancer in the US. Genome-wide association studies have now identified dozens of common genomic variants linked to small increases in colorectal cancer risk. Her research group seeks to identify the functional variants responsible for the increased cancer risk at GWAS-identified loci and to understand the role of these variants in cancer etiology. Previous work has shown that many functional varian

Biotech titan Dr. Stan Crooke joins host Kira Dineen to celebrate rare disease month! Dr. Crooke was the Founder of IONIS Pharmaceuticals, with extensive experience in the pharmaceutical industry developing more than 20 marketed drugs. He has published nearly 500 scientific publications, edited more than 20 books, and has numerous patents.&nbsp;Dr. Stan Crooke is now the Founder and CEO of n-Lorem Foundation, a new San Diego-based organization with an incredible mission of developing individualized RNA targeted medicines for patients with ultra-rare diseases, and providing those treatments for free, for life. These patients have extremely unique mutations and are often only one of 30 people in the entire world to have the disease. After only one year as a foundation, they’ve already made great progress for the ultra rare community, having received 50

To kick off rare disease month, author Patti M. Hall joins host Kira Dineen to discuss her memoir Loving Large which chronicles her son’s rare disease diagnostic odyssey. Her life was pitched into an abyss of uncertainty when a golf ball–sized tumour was discovered in her teenage son’s head and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti’s attention shifted fully to her son, away from her relationships as well as her own career and health. Her new normal sees her step into a dozen additional roles, including nurse, researcher, advocate, risk assessor, and promise maker, while she struggles and fails to rebuild her life as a recently divorced woman. When the unthinkable

Enter the our “Inheritance” book giveaway on our Instagram, Twitter, and Facebook.Author Dani Shapiro joins host Kira Dineen to discuss her instant New York Times best selling memoir, Inheritance, which is being adapted into a film. Her other books include the memoirs Hourglass, Still Writing, Devotion, and Slow Motion, and five novels including Black &amp; White and Family History. She teaches writing workshops around the world, including Columbia, New York University, and the Sirenland Writers Conference in Italy.<p class="" style="white

To kick off 2021, we have a big announcement! All episodes of the show will now be recorded in video as well as audio. You can watch this episode on our YouTube channel here or search “DNA Today Podcast”.&nbsp;In this episode three genetic counselors share their experience and advice taking the American Genetic Counseling Board exam.&nbsp;Boards Topics Discussed:&nbsp;Structuring material with a study planAreas to focus on including Prenatal, Metabolic, Cancer, Neuro, Cardiac, Quant, and Psych&nbsp;Taking th

This episode we are exploring medical interpreting in genetic counseling and other areas of healthcare. Joining me are Genetic Counselor Nina Harkavy and Interpreter Lorraine Way. Nina is a prenatal genetic counselor at Columbia University. She graduated from the John Hopkins University/ NHGRI genetic counseling training program. Lorraine is a Spanish Instructor, medical interpreter and the President of Language Way, a language service company. She has a master’s in French from Middlebury College where she also studied Spanish.&nbsp;On This Episode We Discuss:Improved counseling experience speaking in SpanishDifference between translation and interpretation&nbsp;How healthcare providers can alter t

Our profession has evolved over the last 50 years from a small dedicated group of genetic counselors to over 5,000 individuals in the United States, with sister organizations in Canada, Europe and Australia. Just as the field of genetics has evolved over the last 40 years, so has the National Society of Genetic Counselors (NSGC) and genetic counselors.&nbsp;In this podcast episode, Linda Robinson joins host Kira Dineen to highlight what hot topics, historical accomplishments, challenges, barriers and opportunities during the last 50 years of genetic counseling.&nbsp;Linda Robinson is a retired genetic counselor. She worked primarily prenatal and cancer roles at UCLA , University of Texas Southwestern Medical Center and the California Department of Health.

The National Society of Genetic Counselors (NSGC) hosted its annual conference virtually this past weekend with a new record for attendance. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference.&nbsp;Thanks to our sponsor for this episode, PhenoTips. Imagine a health record system designed specifically for genomics. Cause let’s be honest, electronic health records are not built for genetics. Now you can stop imagining and start using, because PhenoTips is just this! PhenoTips is the world’s first complete Genomic Health record system with pedigree drawing, standardized symptom capture, diagnostic insights and more, all in one place. Check them out at PhenoTips.com.&nbsp;</

Please keep our 2020 Best Science and Medicine Podcast Award momentum going and vote for “DNA Today” for Podcast Magazine’s “Hot 50” Podcasts! You can take 60 seconds to vote here now.Dr. Kat Arney is our guest in this episode of DNA Today. She is a fellow genetics podcaster! She is an award-winning science writer, author, presenter, broadcaster, and public speaker. Her voice will probably be familiar to you as she has appeared on radio and TV around the world including BBC Radio 4, the Naked Scientists and Naked Genetics podcasts, and more recently as the host of the Genetics Unzipped podcast. She has written for outlets including the Times Educational Supplement, BBC Science Focus, the Daily Mail, Wired, BBC Online, The Guardian, and New Scientist. Dr. Arney has authored three popular science books: “Herding Hemingway’s Cats: Understanding How Our Genes Work”, “H

This episode is the last installment of our 7 part direct-consumer genetic testing series. Joining for this episode is guest Melanie Hardy, Assistant Director of JScreen Genetic Counseling Services, which is part of Emory University School of Medicine. Melanie has been an active member in The National Society of Genetic Counselors and the American Board of Genetic Counseling, including chairing multiple committees, workgroups and programs. She has also served on capstone committees for genetic counseling students at multiple universities.On This Episode We Discuss:Number of conditions on carrier screeningDifferent methods of carrier screeningConditions more common in people of Ashkenazi Jewish descentConditions where carriers can have symptomsLimitations of carrier screeningConditions identified on newborn screening<p class

Exciting Announcement: This week “DNA Today” won the Best 2020 Science and Medicine Podcast in The 15th Annual Podcast Awards! This is thanks to each and every listener who nominated and voted for the show. THANK YOU for being such loyal listeners for the past 8 years. We’ve been nominated for four years, and it’s incredible to win this year! For those that aren’t familiar, The Podcast Awards are the longest running podcast awards event open to shows worldwide, this year there was 250,000 people who nominated shows.Michael Schnall-Levin joins host Kira Dineen on this episode to explore genetic testing technology including next-gen sequencing, single cell sequencing and bioinformatics. This episode is part 6 of our ongoing direct-consumer genetic testing series, check out our previous episodes for other deep dives i

This episode is part of our ongoing direct-consumer genetic testing series. Joining the show is an award-winning journalist, Libby Copeland. Copeland, who writes about culture, science and human behavior, is the author of a new book, “The Lost Family: How DNA Testing is Upending Who We Are,” which explores the personal, familial and ethical implications of recreational DNA testing. Copeland was a reporter and editor at The Washington Post for eleven years, has been a media fellow and guest lecturer, and has made numerous appearances on television and radio. Enter our giveaway to win a copy of Libby Copeland’s book, “The Lost Family” on our Twitter, Instagram, and Facebook.Also be su

As part of this episode, 23andMe giving away a free DNA kit! To enter, go to DNA Today’s Twitter/Facebook (@DNApodcast) and Instagram (@DNAradio) and look for the post of a picture of a 23andMe kit with the simple instructions to enter. Don’t miss your chance to win this free DNA kit!Anne Greb, MS, CGC joins the show to share her expertise on direct-to-consumer genetic testing as part of our ongoing series on DNA Today. She is a genetic counselor and serves as lead of the medical education team at 23andMe. In this role, she is responsible for developing educational initiatives that equip healthcare professionals to better integrate personalized genetic information into the everyday care of their patients. Previously Anne was the program

Picture Genetics Kit Giveaway! Enter to win your own free kit on our Twitter, Instagram, and Facebook.Guests for this episode are from Fulgent Genetics (offering Picture Genetic kits), which is the sponsor of this new Direct To Consumer Genetic Testing Series. Jessica Shiles is a genetic counselor and Dr. Samuel Strom is the lab director.Jessica serves as Fulgent’s Clinical Genetics Marketing Specialist. Her main role is to provide clinical training and expertise to help develop marketing material that is used to educate, support, and inform the patients and providers Fulgent serves. With Jessica’s strong passion for patient advocacy, she also leads Fulgent’s community outreach. She is a fellow Sarah Lawrence College’s alumni where she receiv

Dr. Adam Rutherford is our guest for this second installment of our Direct-To-Consumer Genetic Testing series. He is a geneticist, author, and broadcaster. Dr. Rutherford has a PhD in Genetics, a degree in evolutionary biology, and is an honorary Research Fellow at UCLA. He was an audio-visual content editor for the journal Nature for a decade, and is a frequent contributor to the newspaper The Guardian. On radio, he is the presenter of BBC Radio 4’s flagship science program, Inside Science, as well as many documentaries. On TV, he has presented multiple BBC series including The Beauty of Anatomy, The Gene Code, and award winners Playing God and The Cell. Dr. Rutherford has also been a sci

Last chance to nominate DNA Today in the Podcast Awards for the best Science and Medicine. Please take a few minutes to support the show!This episode kicks off our Direct-To-Consumer (DTCs) Genetic Testing Series! Check out our previous episodes about DTCs including episode 116, 105, 91, 80, and 56.Over this brand new series, we ar

Answering your listener submitted questions about the American genetic counseling board exam is the ABGC President, Adam Buchanan, MS, MPH, CGC!Aside from this role at American Board of Genetic Counseling, Adam is an associate professor, genetic counselor and Director of the Geisinger Genomic Medicine Institute. Previously, he was a research associate at Duke Cancer Institute. His clinical expertise includes intimate knowledge of recommended risk management for hereditary cancer syndromes. He is co-leading Geisinger’s MyCode genomic screening program for medically actionable genomic results, and is helping to develop a health services research portfolio on patient-participant, family, and system outcomes of this program.This episode is sponsored by PhenoTips. If you are still drawing pedigrees by hand, you are overdue for an upgrade! PhenoTips provides a free digital pedigree drawing tool. Not only is it in

PodcastAwards.comSelect “DNA Today: A Genetics Podcast” in the Science &amp; Medicine CategoryIt’s that time of year again, the Podcast Awards Nominations opened today (July 1st, 2020)! So I need YOU listeners to get DNA Today nominated at podcastawards.com in the “Science in Medicine” category. Also don’t forget to check off that you would like to participate in the voting round, we will need your support then as well.The show has been nominated in 2015, 2016, and 2019, so let’s go for a fourth nomination and a win this year! This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to go nominate DNA Today in the Science &amp; Medicine Category.If you nominate us an

Podcast Award Nominations begin July 1st, 2020! Please help DNA Today receive a fourth nomination (and hopefully a win this year!) by visiting PodcastAwards.com and selecting “DNA Today” in the Science and Medicine category. We can only receive a nomination if YOU nominate the show!This episode concludes DNA Today’s 7 part infertility series. The first episode kicked off with Lauren Isley who shared about fertility genetic counseling. The next two episodes featured a couple who went through reciprocal IVF to have their daughters (part 1 and 2). Filmma

This episode continues DNA Today’s series about infertility. Over the last five episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2. The following episode the filmmakers of ANYA, a science fiction film about fertility. <a href="http://dnapodcast.com/episodes/2020/6/5/123-infertility-series-dr-kara-goldman-on-fe

DNA Today stands in solidarity with BLM and in doing so we wanted to share a few resources with you listeners where you can educate yourself by listening to Black voices in our genetics community. You can support BLM through donations to ActBlue here.Dr. Janina Jeff was a guest back on episode 117 where she shared her new podcast, “In Those Genes”, that uses genetics to uncover the lost identities of african descended americans through the lens of black culture. Please, listen and support her show along with other black podcasts like American Origin Stories, She Too STEM, </e

This episode continues DNA Today’s series about infertility. Over the last few episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.<p

This episode is part of DNA Today’s ongoing infertility series. The series was launched hearing from Genetic Counselor Lauren Isley, she shared about artificial reproductive technologies and infertility genetic counseling.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Last episode we heard from Katie and Christina Bailey. They were sharing their journey to parenthood through reciprocal In Vitro Fertilization (IVF). We continue this conversation on this episode, so if you haven’t heard the first part of our discussion, you are going to want to listen to the previous episode where Christina and Katie Bailey talk about the beginning of their story with IVF.The Baileys ha

Celebrate Match Day with DNA Today on Friday, April 24th at 7pmET (4pmPT) on Zoom.We want to wish you congrats and share our advice for navigating grad school. Previous guests from last year’s Match Day episode from Sarah Lawrence College’s Class of 2020 will be hosting including Karl Krahn, Maria van Noordenne, Ashlyn Enokian, and Kira Dineen. We’ll also be doing a QnA, so bring your questions!In the meantime, you can revisit our episode (#101) to hear tips from the hosts on how to prepare and what to expect during your first year.All are welcome to attending including current applicants (matched and not matched), prospective/future applicants, and listeners of the show!

This episode continues the DNA Today’s series about infertility. If you haven’t yet heard the episode with Genetic Counselor Lauren Isley, I highly recommend you go back and listen to learn more about the artificial reproductive technologies and the genetic counseling side. It’s a great preview into this episode.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Currently 7.3 million Americans are facing infertility, and this series is bringing awareness to infertility along with teaching the science and genetic side. On this episode, we are going to hear personal perspectives. Joining me are Katie and Christina Bailey. They share their journey to parenthood through reciprocal In Vitro Fertilization (IV

This episode is kicking off a series about infertility. The launch of this series is coinciding with infertility awareness week, April 19-25th, 2020. Over the next few episodes of DNA Today, we will be talking to experts in fertility these include genetic counselors, a couple who went through IVF, even filmmakers who produced a science fiction movie about fertility.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Currently 7.3 million Americans are facing infertility, and we wanted to bring awareness to this, but also education by having these conversations to learn about the science and genetic side, but also the patient side and hearing how infertility has impacted people’s lives and hearing their p

Zaki Sabet joins the show to discuss issues in the diagnostic process of hematologic cancers. Zaki has been with Precipio since co-founding the company in 2011 and currently serves as the Chief Operating Officer. He holds over 15 years of experience in laboratory management spanning all fields of reference laboratory operations primarily focusing on cancer diagnostics, which is the focus of our conversation on this episode. Prior to Precipio, Zaki has served as a consultant with the College of American Pathologists (CAP) for many years as well as several diagnostic companies in setting up their specialized cancer testing operations. Zaki holds a Bachelor of Science degree in Biomedical Engineering from the New Jersey Institute of Technology.On This Episode We Discuss:Background on Hematologic Cancers including SubtypesFrequency of Hem

This episode continues the crossover series with other podcasts. Joining the show is Dr. Janina Jeff, who is a Human Geneticist and the first African American to graduate with a PhD in Human Genetics from Vanderbilt University. She is currently a Senior Scientist at Illumina, a biotech company that creates technology for companies such as Ancestry.com and 23&amp;Me. Her research career was focused on population genetics, specifically studying admixed populations (descendants with African ancestry) and discovering population specific genetic risk factors of common disease. Her podcast, “In Those Genes”, is a hip-hop inspired show that uses genetics to uncover the lost identities of African Americans.On This Episode We Discuss:Inspiration to pursue genetics careerDiversity advancing researchUnique aspects of African genomesDisparity of health and medicine in Non-Eu

By the end of 2020, roughly 100 million people will have taken an at-home DNA test, according to MIT Technology Review. To put that into perspective, that’s more than the combined populations of Texas, California and Florida! In this podcast episode we explore considerations of direct-to-consumer genetic testing.Guests joining the episodes are from DNA ALLY, the matchmaker between direct-to-consumer genetic test consumers and genetic counselors. Nargol Faravashi, is the Co-Founder of DNA ALLY with a background in genetics and business. She had over 20 years of experience in launching clinical products for genomic companies along with an extensive background in business and marketing.Christin Coffeen has been a licensed certified genetic counselor for almost 20 years. She has a background

Dr. Daria Julkowska joins the show for Rare Disease Month as the Coordinator of the European Joint Program on Rare Diseases. This organization was newly established in January 2019. Daria is of Polish origin but she has lived and worked in France for the last 18 years. She has a PhD in molecular biology and is involved in rare diseases research and management for the last ten years.The European Joint Program on Rare Diseases represents 89 partners across the EU and beyond. Internally, the partners include research funders, research institutions and infrastructures, hospitals and of course patient organizations. The program is financed by the EU and the states participating in the project.On This Episode We Discuss:Motivation to Start the OrganizationGoals for the Rare Disease CommunityCountries RepresentedRare Disease Visual Platfo

Genetic Counselor Matt Burgess join the first episode of 2020 to talk about Australian genetic counseling and being a clinical science liaison. He built one of Australia’s most successful genetic counseling private practices in Melbourne. Matt provided versatile genetic counseling services using a broad scope of knowledge including hereditary cancer, neurogenetics, prenatal genetics, adult, pediatric and cardiac genetics. He earned a graduate degree in genetic counseling from the University of Newcastle and a Masters of Applied Positive Psychology at The University of Melbourne. He is currently a Clinical Science Liaison at Baylor Genetics. Matt also hosts another genetics podcast, “Demystifying Genetics”, which makes this is episode part of my crossover series with other genetic podcasts.On This Episode We Discuss:

This episode is part of the crossover series with other podcasts, today’s episode is a crossover with “Advancing Dentistry” also hosted by Kira Dineen. Lauren Winter joins host Kira Dineen on this episode exploring the genetics of dentistry. They are both genetic counseling graduate students, Lauren attends the University of Pittsburgh and Kira attends Sarah Lawrence College. Lauren is a Research Assistant involved in the COHRA2/COHRA Smile Projects at the Center for Craniofacial and Dental Genetics. Lauren and Kira discuss this project and dental genetics in general.On This Episode We Discuss….Role of Genetics in Oral HealthPotential Uses of Genetic Testing in DentistryFactors Contributing to Oral Health Disparities in AppalachiaData Collecting and Analysis of Human Genetics, Oral Microbiome, Oral pH etc.Participant Requirements an

On this episode, we explore the pediatric speciality of genetic counseling. Guest Sam Toy is a pediatric genetic counselor at the Washington University School of Medicine in St. Louis. She earned her BS in Biology and MS in Professional Biology from Indiana University. She went on to earn her MS in genetic counseling from Indiana State University.On This Episode We Discuss:The role of a pediatric genetic counselorOutline of a genetic counseling sessionUnique aspects of pediatric genetic counselingGenetic testing whole genome/exome vs specific genesGenetic testing results’ give a diagnosis, change medical management, and insurance coveragePsychosocial aspects of counselingTransitioning from grad school to being a genetic counselor full time</

The National Society of Genetic Counselors celebrated 40 years at this year’s annual conference! In 2019, we surpassed having 5,000 genetic counselors in the US/Canada! We now have 45 genetic counseling graduate programs in the US and 40 more international.In this podcast episode we recap highlights from the sessions and tips for new attendees next year. Below are some of our talking points and resources we mentioned in the episode. Also check out #NSGC19 on Twitter to read more insight from the conference.Should All Women With Breast Cancer Be Offered Genetic Testing?Panel: Dr Mark Robson from MSK, Dr Peter Beitsch from the Dallas Surgical Group, Sue Friedman founder of <a href="https://www.facingourrisk.org/index.php?gclid=CjwKCAiAqqTuBRBAEiwA7B66hbu3S-djPz1

It’s been 22 years since THE genetic thriller was released…. Gattaca. How has the film aged with genetic technology, society, ethics, and more? Find out in this episode!If it’s been a while since you’ve seen the film, refresh yourself with the plot summary below.Vincent Freeman (Ethan Hawke) has always fantasized about traveling into outer space, but is grounded by his status as a genetically inferior "in-valid." He decides to fight his fate by purchasing the genes of Jerome Morrow (Jude Law), a laboratory-engineered "valid." He assumes Jerome's DNA identity and joins the Gattaca space program, where he falls in love with Irene (Uma Thurman). An investigation into the death of a Gattaca officer (Gore Vidal) complicates Vincent's plans.On This Episode We Discuss Ethical Questions Like...How has our understanding and appreciation of the film changed throughout our careers?Do you think the way Vinc

Shenela Lakhani is the Director of Genetic Counseling and Clinical Engagement for the Center of Neurogenetics at Weill Cornell Medical College, in New York City. In this role she studies the genetics of neurodevelopmental disorders and neurological disease of aging and adulthood.Before this role, she was the first certified genetic counselor in Qatar, a country in the Middle East. Shenela established the profession in the country and promoted genetics within the Middle East by speaking at international conferences. In Qatar she helped to establish high-risk breast cancer screening guidelines and a high-risk gastrointestinal clinic while contributing to local testing and screening guidelines.On this episode we explore what it was like to be the first certified genetic counselor in a country and how she was able to start the profession there and make an impact in public health in Qatar.<br

On this episode Dr. Becky Winslow, a Doctor of Clinical Pharmacy, shares her insight about pharmacogenomics. She is a Clinical Pharmacogenetics Implementation Consortium Member, a Registered Pharmacogenomics Education Provider and a pharmacogenomics implementation specialist as the owner of inGENEious RX, LLC.On This Episode We Discuss:Pharmacogenomics vs PharmacogeneticsCurrent Understanding of PharmacogenomicsTesting AvailableGeneral Population TestingAreas of Healthcare UltizedPrecision Medicine Approach to PrescriptionsMental Health, Cancer etc.Roadblock to Widespread UsePhysicians Ability to Translate Test ResultsGenetic Counselors Potential RoleFuture of PharmacogenomicsCheck out the first truly anonymous direct to cons

The genetic podcast crossover series continues with Grey Genetics’ Patient Stories! Host Eleanor Griffith returns as a guest to offer listeners a peek inside her genetic counseling company behind the podcast.Eleanor Griffith is a board certified genetic counselor and the founder of Grey Genetics, a genetic counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and a Course Instructor at Sarah Lawrence where she also received her master’s.Eleanor’s previous appearance was on episode 71 of the show back in 2017. She shared her insight on how to have a competitive genetic counseling graduate school application. There are a

This episode launches a new series within the show: crossover episodes! I’m teaming up with other genetics podcast to invite hosts of other shows to join me on DNA Today and sometimes I’ll be a guest on their show as well.Kicking off this new series is Dr. Patrick Short, the CEO of Sano Genetics. He is experienced in genomics research with a focus on large-scale genome sequencing projects and rare disorders. Previously he was at the Wellcome Trust Sanger Institute and the University of Cambridge in England. We explore current understandings of genetics of autism and Sano Genetics’s studies.On This Episode We Discuss:Sano Genetics’ for Patients, Consumers and ResearchersEligible Participants For Sano Genetics' StudiesUnderlying Autism and Mathematical AbilityCurrent Understanding of Autism Genetics<

This episode launches Secret Sequence as the new sponsor for the show! Joining me on the episode are the founding team of Secret Sequence, Jason Corbiere and Austin Maier.On This Episode We Discuss Genetic Privacy:- Secret Sequence’s Genetic Testing Kits- Data Security of Genetic Tests- Major Data Breaches- GEDmatch’s Role in Identifying the Golden State Killer- Genetic Information Nondiscrimination Act of 2008 (GINA)- Data Privacy Responsibility of Genetic Testing Companies (DTC and medical grade)<p class=""

TLDR: Nominate “DNA Today” in the Podcast Awards’ Science &amp; Medicine Category before July 31st. I have a big favor to ask from each of you. You may have heard in my last episode, the Podcast Award nomination season has begun! It’s a people’s choice type of award. So, I need listeners like you to nominate the show in the Science and Medicine category. DNA Today was nominated back in 2015 and 2016. And it would be such an honor to be nominated again.In order to be in the running though, I need 2 minutes of your time. It’s very simple, here are the steps!PodcastAwards.comClick Blue Button “Nominations Now Open” (or click this direct link)Sign up (name, email, password)<p cl

Listeners, I have a big favor to ask from all of you. The Podcast Award nomination season has begun! It’s a people’s choice type of award. In order to be in the running I need listeners like you to nominate the show. DNA Today was nominated back in 2015 and 2016. It would be such an honor to be nominated again.In order to be in the running though, I need 2 minutes of your time. It’s very simple…Go to PodcastAwards.com and enter “DNA Today” for the Science and Medicine category. That’s it!Now this closes July 31st, 2019. Don’t forget, if you can please go nominate the show if you enjoy listening! It really helps to increase visibility so other people can also benefit from learning through the show. Thanks in advance! I really appreciate the support for the show.The Camden Opioid Research Initiative has a three

On This Episode We Discuss:Services WatershedDNA OffersMotivation Behind Writing “The DNA Guide for Adoptees”Differences in Genealogical Research for Adoptees Compared to General PopulationPreparing to Meet New Biological Family MembersAdvice for DNA Testing Adoptee Related SearchesDNA Testing for Children/Minors to Find Biological RelativesInsight for Adoptee’s Seeking Medical Information via DNA TestingNon-DNA Methods to Search for Lost Biological RelativesMy Heritage’s DNA Quest Project for AdopteesListen to episode #80 with My Heritage’s Rafi Mendelsohn to learn more.Since recording this project has expanded to offer more free kits!Resources for the

Seth Rotberg, a rare disease patient advocate and motivational speaker, joins the show to share his perspective on Huntington Disease (HD).From 2011 – 2015, Seth served on the boards for the HDSA National Youth Alliance (NYA) and HDSA Massachusetts Chapter to continue his efforts in the HD community. He became the President of the HDSA NYA in 2012 and HDSA Massachusetts Chapter in 2013, where he led a group of dedicated volunteers to plan and execute fundraising and educational events.Seth is still an active member of the Huntington Disease community and currently sits on the Board of Trustees for the Huntington’s Disease Youth Organization (HDYO). As a member of the working board, he connects young people to the proper social, emotional, and educational resources needed when coping with HD. His hope is to be a mentor for young people who face adversity by sharing how taking co

Happy Genetic Counseling Match Day! Today we are celebrating the genetic counseling graduate program match day by discussing how to prepare and what to expect during the first year. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.In a way this is a follow up episode from the application process discussions. If you are thinking about or planning on applying to genetic counseling grad schools check out those episodes. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application proces

This show is a landmark episode, number 100! I want to sincerely thank all you listeners, new and old, for tuning in. It’s been such a fantastic experience over the last 7 years to share news and interviews with you all and learn along with you. I hope you’ve enjoyed listening to the shows as much as I have have enjoyed recording and producing them.Author Carl Zimmer joins me to discuss new and old hereditary concepts. He writes the Matter column for the New York Times and has contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex, Evolution: The Triumph of an Idea, Microcosm: E. coli and the New Science of Life, and his latest, She Has Her Mother’s Laugh: The Powers, Perversions, and Potential of Heredity which we discuss on this epis

Two leaders from the Coriell Institute for Medical Research join the show to discuss biobanking. Nahid Turan, Chief Laboratory Officer, and Alissa Resch, Chief Scientific Officer, lead separate aspects of the Institute scientific efforts.Coriell is known for its impact in the world of biobanking. If you’ve ordered biological materials in the past for research, there’s a good chance you’ve ordered from them before. In its 65 year history, Coriell has partnered with many federal, private and nonprofit organizations, offering expertise in the collection, processing, storage and distribution of biological materials, and in the process built one of the most diverse and important collections of biomaterials in the world. It’s because of their collection that endeavors like the Human Genome Project were possible and that the science of personalized medicine thrives today.On This Episode We Discuss:Definition of Biobanking and Process<

To celebrate and honor Rare Disease Awareness month (February) Lydia Seiders joins me on the show. She is a volunteer Maryland State Ambassador for NORD, the National Organization for Rare Disorders, through NORD’s advocacy arm the Rare Action Network. Her daughter was diagnosed with aplastic anemia, a form of bone marrow failure. This motivated Lydia to become an Ambassador for NORD. In this role, she leads about 200 network members across the state to raise awareness for approximately 600,000 patients affected by a rare disorder. Lydia leads educational initiatives and develops state-based campaigns to increase patient awareness. She partners with advocates nationwide to act on policy impacting the rare disease community.Lydia also works closely with the Aplastic Anemia and MDS International Foundation and the national bone marrow registry - Be the Match<

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful!On This Episode We Discuss:Overall Appli

Jim Cavan, CEO and President of Backpack Health is featured on this episode. He has great passion for helping healthcare companies tackle systemic problems, and 20 years of executive health research and startup leadership experience. The development of Backpack Health is the result of several key goals of his, including improved access to and control of medical information, and less obtrusive collection of research data.Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. The Backpack Health mission is to empower patients by making it easy for them to access, own and control all their health information to support better health for themselves, their loved ones and their communities. Just like a real backpack, the portable, multimodal, multilingual app allows users to carry around what matters most – their personalized, comprehensive medical information and documents – i

Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis.Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer.This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants.Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint, explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutati

Dr. Biju Parekkadan is a Co-Creator and Scientific Director of the hard science graphic novel, Legend of Sumeria. He is a Professor of Biomedical Engineering with a research lab that specializes in cell and genetic engineering. His discoveries have been published in prestigious journals with patented inventions that have led to the foundation of several companies. He received his bachelor’s degree from Rutgers University and a doctorate from the Harvard-MIT Division of Health Sciences and Technology. In 2012, he was recognized by President Obama with an Early Career Award for Scientists and Engineers, the highest honor bestowed upon young researchers in the country. Dr. Parekkadan’s daily work in biotechnology research and education provides a unique perspective in the creation of the viable science behind Legend of Sumeria.This Episode We Discus

Members from Team Telomere (formerly DC Outreach), a community for telomere biology disorders join me for this episode. This panel includes patient advocate Katie Stevens, Dr. Sharen Savage, and Dr. Suneet Agarwal. They provide information and support services to families worldwide who are affected by these disorders, encourage the medical community’s research in finding causes and effective treatments, and facilitate improved diagnosis by educating medical providers.Katie Stevens is the Executive Director of Team Telomere. Her oldest child, Riley, is affected by a telomere disorder. Katie’s goal is to be an advocate and resource. She is also a member of Global Genes Foundation Alliance Advisory Council and a NORD member leader.Dr. Sharon Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and e

Dr. Erin Young discusses the role genetics play in pain susceptibilities. She is an Assistant Professor of both the School of Nursing and Genetics and Genomic Sciences at the University of Connecticut. Her career has been focused on studying genetic contributions to pain susceptibility, for which she has published numerous papers sharing her findings. She received her BA at Wesleyan College, and her MA and PhD at Kent State University. She also completed two postdoctoral fellowships, at Texas A&amp;M University and the University of Pittsburgh Center for Pain Research.This Episode We DiscussThe Role Genetics Plays in our Experience of PainWhy People have Differences in Pain ResponsesGenes and Pathways Involved in PainEnvironment Factors Affecting Pain SusceptibilitySomatic vs. Visceral Pain BehaviorsPain Mechanisms Behind Inflammatory Bowel Disease (IBD)Animals Models Used and Translating Findings to

Ellen Matloff is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. Ellen is a Forbes.com contributor in the area of genetic counseling, testing, and digital health.As ge

Erica Ramos is the 2018 President of the National Society of Genetic Counselors (NSGC). She builds products, programs and strategy in the genomics and genetic counseling arenas with expertise in rare disease and predictive genome sequencing. Erica is currently director and head of Clinical &amp; Business Development for Geisinger National Precision Health.This Episode We Discuss:Elevator Pitch of Genetic CounselingRamos’ Career BackgroundGoal of NSGCRamos’ role as President of NSGCBiggest Challenges in the Genetic Counseling Field2018 NSGC Professional Status SurveyExecutive Summary Available to Public94% of GCs who took part in NSGC

Dr. Andrew Ury is the CEO and Founder of ActX, one of the leading companies in electronic health record integrated genomic decision support. He previously founded and was CEO of the first commercial electronic medical record company, Practice Partner. He is also the co-founder of one of the leading practice-based research networks, PPrNet. Dr. Ury helped found and was twice the vice-chair of the Electronic Health Record Assoc (EHRA). He is a graduate of Stanford Medical School.This Episode We Discuss:Definition of Electronic Health Records (EHRs)EHRs Histor

Ira S. Pastor is the CEO of Bioquark, a life sciences company, developing proprietary combinatorial biologics for the regeneration and repair of human organs and tissues. Ira has over 30 years of pharmaceutical experience. He serves as a board member at multiple companies and organizations including RengerAge, the Reanima Project, The World Academy of Medical Science and the World Economic Forum’s Human Enhancement.This Episode We Discuss…Regeneration and repair of human organs and tissuesNatural regenerative capability of humansEffect of agePotential role of telomeraseBioquark’s area of focus in regenerationConditions that could potentially benefit from regeneration researchGenetics role in regenerationResearch on animals regenerative abilitiesGrowing organs outside the human body and its impact on the organ donor systemSomatic reversion and how it differs from other gene therap

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part one of two podcasts, discussing how to gather the experience and classes to have a competitive application. Early next year (2019) we will also release a follow up episode focusing on the second part of the application process: interviews, ranking and matching.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has been summarized on the blog post with this episode on DNApodcast.com. We hope prospective and applying students find this summary and episode helpful!The Incoming Genetic Counseling Student PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 85 episodes interviewing genetic counselors, patient advocates and other genetic experts. The sh

Dr. Michael Fossel is the world’s foremost expert on the clinical use of telomerase for age-related diseases. In 1996, he wrote the first book on the telomerase theory of aging, Reversing Human Aging, and has published the sole medical textbook on the topic. Most recently he published The Telomerase Revolution which was named one of the five best science books of the year by the Wall Street Journal.Dr. Fossel earned his PhD and MD from Stanford University, where he taught neurobiology and research methods. He has lectured at the National Institutes of Health and the Smithsonian Institution and has appeared on Good Morning America, CNN, BBC, and NPR among others. He is currently working to bring telomerase to human trials for Alzheimer's disease with his company, Telocyte.On This Episode We Discuss…Telomere theory of agingAge related diseases telomerase potentially prevent/treatTelomerase product effects on ca

Sarah McAnulty is a squid biologist and science communicator. She founded Skype A Scientist, matching classrooms with scientists for QnA sessions. Sarah is also a Ph.D. Candidate and Scientist at the University of Connecticut. She studies squids and their symbiosis with bioluminescent bacteria.On This Episode We Discuss:Skype A ScientistEffect ways to communicate scienceDifferences between squid species, which ones Sarah works withSquid research goalsThe symbiosis relationship between the squid and bacteriaSquid’s blood, microbiome, and immune systemSarah’s inspiration to pursue a squid research careerAdvice/resources for students interested researchSarah is very active on Twitter and Instagram providing squid fun facts, videos, pictures and

In this podcast discussion we peek into the world projected by J.D. Lasica in his new genetics thriller novel, Biohack. We consider and debate a few ethical issues that arise in the book focusing on the potential implications CRISPR has for our future.J. D. Lasica is an author, Silicon Valley entrepreneur and public speaker. He spoke at the United Nations in 2012 about how to use social media to combat global poverty, and he has given talks on four continents. His new book Biohack is a high-tech genetics thriller.Dr. Katie Hasson, is the Program Director on Genetic Justice at the Center for Genetics and Society. She was an assistant professor of sociology and gender studies at the University of Southern California. She has researched and written on reproductive technologies and women’s health.On This Episode We Discuss:The genetics thriller novel Biohack and the bioethical issues it raisesP

Alexander Ille, the Director of the Genome Cure Organization, joins me on this podcast episode. He received a Bachelors of Science from University of Waterloo and is currently a graduate student at D'Youville College, actively participating in genetic research. He also wrote a book, “The Genome Cure: The Future of Medicine for Alzheimer's, Cancer, Diabetes and more”.Alex founded the Genome Cure Organization in 2016 and is enthusiastic about genomic research and its medical implications. This mission of his organization is to push towards finding cures for a multitude of diseases through the advancement of gene therapy and gene editing.On This Episode We Discuss:Hereditary component of Alzheimer's DiseasePrevalence of Alzheimer’s Disease in the populations and how many people affected</p

A panel of guest from Smith Family Clinic for Genomic Medicine in Huntsville, Alabama joins me for this episode exploring the power of whole genome sequencing for patients with undiagnosed diseases.On This Episode We Discuss:Whole genome sequencing (WGS) vs exome sequencingQualifications for patient to receive WGSNext steps after a “negative WGS”Value of WGS for patients not seeking a diagnosisHero fund to help families afford testingPredictions of the future use of WGSGenetic counselors role at the clinicApproach to explain testing to patientsNext steps for an untreatable/incurable diagnosisInteresting case studiesIncidental and secondary findings from WGSDr. David Bick is a board-certified clinical geneticist and clinical molecular geneticist with over 20 years of clinical experience. He sees patients and families who are struggling with a rare

Irina Brooke joins me for this podcast episode. She is an patient advocate with the mission of supporting people with BRCA mutations and educating the public on this testing and how it can empower healthcare decisions.On This Episode We Discuss…Deciding to pursue genetic testing and resultsQualifications for having a strong family history of ovarian, breast and/or prostate cancerThe risk of passing on a BRCA mutation to a childMales inheriting gene mutationsGenetic counseling process and experienceCancer development risk level for people who have BRCA gene mutationsBeyond BRCA, additional gene mutations that increases one’s risk for developing cancerOptions for preventing and monitoring cancerRecovering from breast cancerSupport systems availableGetting involved in the patient advocacy communityBRCA community terms (previvor, mutantvivor, etc.)Advice to those with family hist

Rafi Mendelsohn is the Director of Public Relations and Social Media at MyHeritage. MyHeritage is the largest family history and DNA company that helps consumers to discover their ethnic origins and find new relatives. Their new pro bono initiative, DNA Quest, is currently helping adoptees and their birth families reunite through genetic testing, which we explore in this podcast episode. This offer is only available through the end of April 2018! Apply today for one of 15,000 free DNA kits.&nbsp;Learn more on MyHeritage's blog.&nbsp; On This Episode We Discuss:-How the project started-Who is eligible and how to apply for this free testing-What is required for the testing-The timeline of the project-The number of people who find their biological relatives through MyHeritage-

Joining me on this episode is Bibaswan Ghoshal. He is a Senior Bioinformatician at the Lunenfeld Tanenbaum Research Institute of Mount Sinai Health System in Toronto. He has his Master’s of Science in Medicine and finishing his PhD in Bioinformatics, Animal Microbiome and Agriculture from the University of Alberta. On this episode we discuss…The number of microbes in inside us and how they help usFactors/technology that impacted the start of this new fieldDifferences between studying the human microbiome and genomeTechniques/technologies used to study the microbiomeHuman Microbiome ProjectHealthy microbiomesFactors that affect microbiomesVariations between people’s microbiomesMicrobiome researchRole of a bioinformatics analyst in microbiome research Learn more about the microbiome through the University of Utah’s free interact

 My guest joining me for this podcast episode is Dr. Pawel Buczkowicz. He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42. He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize

February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research."This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or

To raise awareness for February Heart Month, I am joined by Amy Sturm, a cardiovascular genetic counselor. She has 15 years of experience in cardiovascular genetics, personalized genomics, research, and education. Amy is the Director of Cardiovascular Genomic Counseling and Professor at Geisinger Health System's Genomic Medicine Institute. There she provides leadership for the scaling up of genomic counseling efforts in the MyCode Community Health Initiative. She serves as the President-elect and the Cardiovascular Genetics Expert at National Society of Genetic Counselors (NSGC). Amy also works with The Familial Hypercholesterolemia Foundation and The Sudden Arrhythmia Death Syn

We are kicking off Rare Disease Month, which leads up to Rare Disease Day (February 28th, 2018). My guest is Eden Lord, Co-Founder and CEO of My City Med. The company is an online health and medical resource site that allows patients to search for a doctor and read reviews, and also connect with non-profit resources and online community support groups. On the show, Eden explains how both patients and physicians can benefit from My City Med’s services and resources. She also provides insight into creating MobiMedQR.com a service that allows patients/caregivers to create a medical profile accessible through QR codes. My City Med and MobiMedQR were inspired by her own family’s needs to navigate the healthcare system. Eden is a mom to kids with rare diseases and during the episode, she shares her role as a caregiver and the journey her family has

After having a family history of Huntington's Disease, Antonio Maltese was pre-symptomatically genetically diagnosed with the disease himself. This diagnosis has motivated Antonio to become a fierce patient advocate with big plans to change the future of people with Huntington’s disease. Huntington’s Disease is progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. This neurodegenerative disease is caused by an excess of CAG repeats in the Huntingtin gene (HTT). Unaffected people have this DNA sequence repeated 10 to 35 times. Those that may be affected have 35-39 repeats and those with over 40 repeats will develop Huntington’s Disease. This disease is inherited in an autosomal dominant pattern, meaning if a parent has Huntington’s Disease their child has a 50% chance of inheriting the

Jenna Guiltinan is a laboratory genetic counselor. She received her Master’s in Genetic Counseling from California State University Stanislaus in 2013. Jenna worked at Ambry Genetics as a reporting genetic counselor for over four years. However, she recently left her position at Ambry to pursue a new laboratory position. As a laboratory genetic counselor, she helps interpret and report genetic test results. In this episode we discuss a subfield of genetic counseling, working in the laboratory. Jenna shares how her position differs from a “traditional” genetic counselor who meets directly with patients. She also provides insight on why more genetic counselors are pursuing careers in the laboratory setting. Jenna explains the types of tests run to identify genetic variants and what areas of healthcare utilizes these tests. The data produced from the tests needs to be interpreted, the genetic variants need to be classified. Jenna offers her insight on how mu

Megan Maxwell explains her role as a research genetic counselor. She has experience in clinical, laboratory, sales, educational, and research settings. She is currently a Genetic Counselor Project Manager for The MilSeq Project at Lackland Air Force Base in San Antonio, TX. &nbsp;This research is conducted under the Genomes2People (G2P) Research Program at Brigham and Women’s Hospital, Harvard Medical School, which is focused on the medical, behavioral, and economic implications of translational genomics and personalized genomic medicine, and the Air Force Personalized Medicine Program. Megan earned her BS in Human Biology from University of California, San Diego (UCSD) and her MS in Genetic Counseling from California State University, Northridge (CSUN). If you are interested in finding a genetic coun

Eleanor Griffith, MS, CGC is a board certified genetic counselor and the founder of Grey Genetics, a genetics counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is the Treasurer of the NYS Genetics Task Force and a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, where she also received her M.S. in Human Genetics We discussed how students can have a competitive application for genetic counseling graduate schools. Eleanor shares her insight on the components of an application including prerequisites, personal statements, experiences (genetic counseling job shadowing, advocacy, laboratory work, co

Heather Z is a patient advocate with two rare brain tumors and a hereditary cancer syndrome called Cowden Syndrome. On this episode she shares her journey from first symptoms, to genetic testing and eventually diagnoses and surgeries. Heather has a PTEN mutation which officially diagnosed with Cowden Syndrome. She offers insight on what she has learned through these challenges including how to helps others with hereditary cancer syndromes and rare diseases.&nbsp;Hereditary cancer syndromes evaluate one's risk to develop certain cancer depending on what mutation they have. For Cowden Syndrome this includes cancer of the breast, thyroid and endometrium (lining of the uterus). Most people with Cowden Syndrome develop hamartomas. These are noncancerous growths found on the skin, mucous membranes (such as the lining of the mouth and nose), and intestines.&nbsp;If you would like to hear/read more from Heather, check out her GoFundMe, blog, Twitter and Instagram.&nbsp;

“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researc

Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter faces. Those same efforts led him to a researcher who is now investigating the disorder. Bo hosts another podcast “Stronger Every Day” and has written a book of the same name, as well as several novels. He co-founded Maine Rare. He was the State Leader for Rare Disease Day in Maine for NORD (the National Organization for Rare Disorders). He's also a lawyer. The film he produced, "Tess Is Not Alone: A USP7 Story" will be played during the Rare Disease Film Festival in Boston October 2rd through October 3rd. Learn more about USP7-Related Disorders on the Foundation for USP7-Related Disorders on their website. Keep up with Bo and his family by following @BoBigelow and @strongerpodcast on Twitter.

Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017. Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Cur

Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center. In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling.

Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.

Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. H

Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... V

Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders, http://www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (

Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on  pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine. 

Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clea

Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at

Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists ar

Patient advocate, Georgia Hurst, shares about the hereditary cancer syndrome that she has, Lynch syndrome. It is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. Georgia shares about her journey with Lynch syndrome from genetic counseling and genetic testing to find her mutation to risk reducing surgeries and how it has altered her life. New research and treatments in the hereditary cancer syndrome community is also Genetic counselors are important in guiding patients through genetic testing. Genetic counselors are valuable resources for helping patient learn about what hereditary cancer syndromes they may have and information for risk reducing surgeries. We highlight the difference between people practicing genetic counseling and certified genetic counselors. Georgia Hurst is a Lynch Syndrome Advocate, with her r

Genetic counselor Brianne Kirkpatrick discuss family health history in honor of November being it’s awareness month, what the public should know about direct-to-consumer tests, how ancestry genetic testing works, and insight on running a private practice. Brianne Kirkpatrick, is a licensed and certified genetic counselor with more than 11 years of experience. She is a member of the National Society of Genetic Counselors, International Society of Genetic Genealogy, and the National Genealogical Society. She has her own private practice, WatershedDNA, where she offers clients her expertise in medical genetics and counseling to provide support and information to those seeking DNA testing for genealogy and health purposes. Brianne received her Bachelor’s in Biology and Religious Studies at Indiana University followed by a Master’s in Genetic Counseling at Northwestern University.

Sharon Begley presented at UCONN about the invention and evolution of the CRISPR-CAS9 technology. After the event she joins me on the show to discuss how CRISPR technology is making huge advances in research with HIV/AIDS, sickle cell disease and more. We discuss how CRISPR compares to other genetic editing technologies and why it has become so universal. Sharon Begley, is a science communicator and is the senior science writer at STAT, the life sciences publication of the Boston Globe. Sharon Begley was previously the senior health and science correspondent at Reuters, the science editor and the science columnist at Newsweek, and a contributing writer at the magazine and its website, The Daily Beast. She is the co-author of the book, The Emotional Life of Your Brain. Another UCONN event is discussed in this episode, Environment, Epigenetics and Cancer: How to Cultivate the Connections. I highlight points from Dr. Mary Beth Terry’s keynote presentation, “Breast Cancer Susceptibili

Four events in one episode! I cover the NY Cytogenetics Regional Meeting I attending highlighting interesting points from presentations by Dr. Irene Cherric, Dr. Robert Hutchinson, Thomas Pope, Dr. Kazim R. Chohan, and Dr. Frank Middleton. I also discuss my presentation on the public's awareness of genetics through social media. These three genetic events are upcoming at UCONN/UCONN Health. All three have a focus on epigenetics, showing just how influential and universal this field of genetics is becoming. Environment, Epigenetics and Cancer: How to Cultivate the Connections October 24th, 2016 at 11:30 in the Student Union of UCONN Storrs, CT. Keynote Presentation by Mary Beth Terry, PhD “Breast Cancer Susceptibility : Rethinking the role of the environment and methods to improve risk assessment” Goal of the event to provide attendees with an update of current research and our understanding of the role of epigenetics and the environment in cancer risk and development. The panel

Genetic counselor, Ginger Nichols, shares about what the MotherToBaby service offers (1-860-679-6199 for CT), her role as a genetic counselor, her expertise of the impact of the Zika Virus on pregnancy, the recommendation of flu shots for pregnant women, the effect of drugs on pregnancy, and October being Pregnancy and Infant Loss Awareness Month. Ginger also offers her insight into becoming a genetic counselor.  Ginger Nichols is a certified genetic counselor. She currently works for MotherToBaby CT, which is housed at UCONN Health in the Human Genetics department. Previously she worked in cytogenetic laboratories, taught undergraduate biology/genetics, and counseled adults with Down syndrome and other genetic disorders. She received her bachelor’s in Biology and Sociology at Juniata College followed by a Master’s in Medical Genetics at the University of Cincinnati. If you want to find a genetic counselor in your area, please go to nsgc.org, there you can find a search feature that

September is national awareness month for Charcot Marie Tooth (CMT)! It’s perfect timing for Bernadette Scarduzio and Allison Moore to educate us on CMT in honor of the awareness month.  "Charcot-Marie-Tooth disease (CMT), named after the three doctors who first identified it, is one of the most common inherited nerve disorders. CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide, although experts believe the number could be much higher." (hnf-cure.org) Bernadette Scarduzio and Allison Moore are a passionate advocates for Charcot Marie Tooth (CMT) syndrome working for the Hereditary Neuropathy Foundation. Allison is the Founder and CEO and Bernadette is the Social Media Coordinator. Bernadette was born with CMT and lives with the syndrome every day. To raise awareness for the disease Bernadette’s life and family were featured in her self titled documentary, supported by HNF. Many of Bernadette’s family members also have the syndrome and sh

Nevena Hristozova joins me on the show all the way from Brussels! She is in the field of research working with chaperones - stress related proteins, in plants under unfavorable environmental conditions. Nevena maps the molecular interactions of those proteins and their client proteins. We discuss the relationship between chaperons and plants, different types of stress related proteins, chaperons in humans and GMOs. She started her education in Biotechnology in her home country of Bulgaria, then moved to Helsinki for a master's degree in Natural resources, and is now last year PhD student in the Flemish Institute for Biotechnology in Brussels. Nevena's been working on molecular mechanisms of plant resistance and protection against pathogens and environmental conditions. You can check out her blog and follow her on Twitter at @NHristozova.

Dr. Fan explains what plasmids are, highlights cool genes that are inserted into plasmids and how Addgene's plasmid repository works.

Prenatal genetic counselor Brittany Gancarz talks about the field of genetic counseling, busts a few genetic counseling myths and announces a new genetic counseling program in Connecticut! She shares her expertise on genetic testing, what patients can expect during a prenatal genetic counseling appointment, and gives advice to students who are pursuing genetic counseling. Brittany Gancarz graduated from Sarah Lawrence College with a master’s of science degree in Human Genetics. She is a genetic counselor and a clinical instructor in UCONN Health’s Genetics and Developmental Biology department.

Dr. Ellen Elliott discusses her research of lncRNAs in TH2 cells and asthma. One of the technologies she uses to study this is CRISPR, a genetic editing technology. CRISPR has hit the mainstream media fast, it was recently featured on the cover of TIME magazine. Dr. Elliott also gives us a sneak peak at Jackson Laboratory’s new blog series. Dr. Ellen Elliott is a Postdoctoral Associate in Adam Williams’ lab at the gorgeous Jackson Laboratory Genomic Medicine in Farmington, CT. Dr. Elliott is studying the function of long non-coding RNAs in TH2 cells and asthma. Her results will hopefully generate lncRNAs that could be used as therapeutic targets or in diagnostic tests. Dr. Elliott graduated from Indiana University with a BS in Biology and a BS in Neuroscience. After she graduated from the University of Pennsylvania with a PhD in Cell and Molecular Biology.

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Sharon Turcotte did research on lncRNAs with Williams Lab at the Jackson Laboratory for Genomic Medicine. She teaches us what a lncRNA is, its function in gene expression, diseases lncRNAs have been associated with, using the CRISPR-Cas system and her advice for students joining the biotech industry. If you want to learn more about RNAs, check out the database RNAcentral.org. You can also read more information about Williams Lab.

National DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. NHGRI began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives. Check out NIH's director, Francis Collin's AMA on Reddit, the Harry Potter and the Genetics of Wizarding webinar and the tweetchat #DNADay16 archives. To celebrate on the show, I talk about what DNA is, the history of humans discovering new aspects of DNA, the fun events you can take part in and careers that all relate to DNA. Any questions about DNA Day and it’s events can be direct to [email protected]. You can learn more on their website, https://www.genome.gov/10506367/national-dna-day/.

The Hole in the Wall Gang Camp is dedicated to providing “a different kind of healing” to seriously ill children and their families throughout the Northeast, free of charge. It’s a community that celebrates the fun, friendship and spirit of childhood, where every kid can “raise a little hell.” Former camper and current camp counselor, Ester Wasserman shares the magic of camp, how it was founded, what it offers campers and her own experience through the years.

CRISPR is a genetic editing technology that will change the future of genetics. In the past 3 years it has been used in labs throughout the world. It has the potential to fix point mutations and larger mutations in our genome. Diseases caused by point mutations include Cystic Fibrosis, Sickle Cell Anemia, and Tay-Sachs disease. More complex conditions such as cancer, HIV or autism could be cured if the RNA gene editing is developed further. On March 16th, 2016, it was published that RNA was successfully targeted for the first time. This is just the beginning of CRISPR. Listen to hear how CRISPR works and how it was discovered. Get the inside scoop on the current research, ethics, politics, and patents.

March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you

Jackson Laboratories held The Bioscience Career Forum II: Women in Biosciences on March 11, 2016 at it's newest location on UCONN Health’s campus in Farmington, CT. The Forum centered on recruiting and retaining women in the biosciences. Women leaders in the bioscience industry discussed what it takes to enter Connecticut's most rapidly developing sector. Topics included equalizing the the gender gap in the biosciences, vital skill acquisition and training, the importance of networking and finally, how to land job. Speakers included.... Ellen Matloff is the former director of Yale's Cancer Genetic Counseling program and current CEO and president of My Gene Counsel. Her keynote address focused on society’s impact on girls and women pursuing careers in the biosciences. Dr. Albert Cheng, Assistant Professor, JAX-GM, presented on CRISPR –Cas9 Genome Editing Technologies. A panel of women in the bioscience field discussed being a women in the field and answered students questions. Dr.

February 29th is the rarest day of the year and that means it's Rare Disease Day! Throughout the world NORD (The National Organization of Rare Diseases) has hosted Rare Disease Day events. I attended the Connecticut Rare Disease Day at the State House in Hartford and interviewed a few of the presenters including Jackie and Eloise Stager, founders of JaxLegacy, John Hopper, the director of the Fibrolamellar Cancer Foundation and Maddie Shaw, leader of Maddie's Herd. Join the rare disease tweetchat March 1st, 2016 at 1pm ET using the hashtag, #abcDRBchat.

Dr. Caroline Dealy returns to the show to discuss the UCONN-TIP (Technology Intern Program). She is the founder and director of the program. UCONN-TIP pairs UConn students with university start-up companies for mentored research internships in business or STEM. She shares what kind of research experience can students anticipate and how it can help in your career. You can read more about the program and apply. Submit your application soon, the deadline is March 7th, 2016!

On a recent episode of the Keeping Up With The Kardashians, the family went through genetic testing, but what did the episode leave out or get wrong? I review the documentary Sun Kissed: One Gene Exposes a Nation's Dark Past, about a family who has children with an extremely rare genetic disorder, Xeroderma Pigmentosum, that only shows up at a rate of one in a million in the general population however on the Navajo Reservation they live on where the frequency is 1 in 20,000.

In his book, Misha Angist takes you through his experience as the fourth subject in the Personal Genome Project, George Church’s ambitious plan to sequence the entire genomic catalog: every participant’s twenty thousand–plus genes and the rest of his or her six billion base pairs. He shares his thought process on deciding to be a participant and contemplates the advantages and disadvantages. This journey takes you through Angist discovering his variants and what disease he was at a higher risk for.

Rebecca Skloot, best-selling author, has published an article, "Your Cells. Their Research. Your Permission?", in it she urges the public to voice their opinions whether permission should be required by scientists to use people's cells for research. She poses the following questions for the public to comment on on a government website, but do it fast because it closes January 6th, 2016. “Should scientists have to ask permission to use all leftover clinical samples? Would you say yes? Is broad general consent enough, or do you want options for more control? Why? Should this apply to both tissues and genetic information, anonymous or not? And what if this slowed scientific progress?” Need more information to form your opinion? Check out this one page summary and videos from the Department of Health and Human Services.

I recap the UCONN BRCA event I MCed. It featured a panel of experts including a Certified Genetic Counselor (Robin Schwartz, featured below), members of the department of Public Health Genomics Advisory, Physicians and Cancer survivors. There was an interactive presentation about family history tool, education, and cancer genomics best practices. There was a discussion with medical personnel and patients about identifying risk factors for hereditary breast and ovarian cancer, genetic testing, how to find qualified genetic personnel, sharing a BRCA diagnosis, and ethical issues surrounding genetic testing.

It’s October and that means it National Awareness for many cancers, disorders and diseases. I discuss some of these giving a 101 lesson on the diseases such as breast cancer and liver cancer. Don't forget to attend the BRCA event, "Understanding Risk for Breast and Ovarian Cancers: A Discussion for Students as Consumers & Future Healthcare Provider". It is happening here at UCONN Storrs!

UCONN hosted a free event honoring Henrietta Lacks on September 24th, 2015 at The Jorgensen Center for the Performing Arts. The bestselling author of the book, The Immortal Life Of Henrietta Lacks, Rebecca Skloot presented as well as members of the Lacks family. This episode recaps the event and features an interview with descendents of Henrietta Lacks, Kimberly Lacks, granddaughter, and Veronica Spencer, great-granddaughter.

What are syndromes that elevates one’s risk for developing cancer? There are many different conditions, this episode highlights Cowden’s Syndrome, Lynch Syndrome and Li-Fraumeni Syndrome. I cover information such as what the syndrome is, how it increases risk of cancer, how prevalent it is, how it is inherited, and what genes are involved.

Dr. Caroline Dealy of UCONN Health gives an inside scoop about her research on the development of the human skeleton. This regenerative research involves human embryonic and induced pluripotent stem cell. Dr. Dealy explains the role of genetics in these stem cells. She shares her insight on these incredible potential medical treatments for people that have lost limbs. We also discuss her role as the director of the Skeletal, Biology and Regeneration Graduate Program and what she is teaching her students in anticipation of how this field is changing.

Robin Schwartz shares her experience as a hereditary cancer genetic counselor. As a genetic counselor for over 30 years she has seen many changes in the field and provides an inside scoop. She provides information to patients who are interested in genetic counseling and how patients can prepare for a genetic counseling meeting. We discuss red flags for hereditary cancer, genetic testing, and how insurance coverage works with the cost of these services. Check out nsgc.org, mentioned by Robin Schwartz, to learn more about genetic counselors.

10 women who made major contributions to the fields of microbiology and genetics are recognized. Rosalind Franklin provided key evidence for the structure of DNA. Nettie Stevens supported her hypothesis that a fetus’s sex was determined by chromosomes, not environment. Barbara McClintock discovered mobile genetic elements. Salome Gluecksohn Waelsch founded the field of developmental genetics. Esther Lederberg discovered the lambda phage, worked on the F fertility factor, and, developed the method of replica plating. One theme throughout this episode is how little credit these women recieved for their work.

A review of a Precision Medicine Initiative presentation at Jackson Laboratory Genomic Medicine in Farmington, CT. by Dr. Jo Handelsman. Also on July 10th the 21st Century Cures Act passed in the House of Representatives, the advantages and disadvantages are explored if this is passed in the Senate.

Maddie Shaw is an active advocate with the Immune Deficiency Foundation and has a Primary Immune Deficiency Disorder (PI). She is also the Founder & Leader of Maddie’s Herd. Maddie's Herd raises awareness and research funds ($22,000 so far of her $50,000 goal!) for the ImmunoDeficiency Foundation (IDF) as 1000s of Americans are battling immunodeficiency disorders through prolonged diagnosis. Maddie is teaching doctors to "Think Zebra" when they hear hoofs. Like Maddie's Herd on Facebook to stay up to date. Don't forget to get your very own Maddie's Herd T-shirt and bracelet, both of which Ed Sheeran owns, he even wore his bracelet while playing on stage!

Dr. Klassen shares his research with fungus-growing ant symbiosis to understand how microbial interaction evolves. He explains how relevant genetics is in his research as well as other research he has done involving gene fragmentation, phylogenetic analysis and drafting genome sequences. We discuss how genome sequencing works and how the technology has advanced in the last 10 years. The device we refer to in the episode is seen below! He explains what students can expect in his spring 2015 Microbial Genomics course (MCB 3895-004). Dr. Klassen is an Assistant Professor at UCONN. He received his PhD in Microbiology and Biotechnology, University of Alberta and his Postdoctoral Study in the Department of Bacteriology, University of Wisconsin-Madison. He has his own lab in UCONN Storrs campus, Klassen Laboratory. Learn more on jonathanklassenlab.com and follow their activities on Twitter @KlassenLab.

Plugging Away at Leaks in the Public Health Dike: Infectious Disease - Ebola and the Rest. This event was sponsored by the UCONN Student Chapter of the American Society for Microbiology and featured 2 speakers. Dr. Richard Melchreit is the Healthcare Associated Infections Program Coordinator at the CT Department of Public Health. He discussed the hosts of infectious disease challenges facing public health today. He discussed the concerns and pandemic influenza, outbreaks for foodborne disease; healthcare associated infections; and antimicrobial-resistant pathogens (such as MRSA, drug-resistant TB and CRE) Dr. Randal Nelson, DVM, CT State Public Health Veterinarian expanded upon Dr. Melchreit’s ideas as well as talked about zoonoses. Dr. Rob Knight from Pediatrics and Computer Science and Engineering of University of California presented on the Dynamics of the Human Microbiome. I share a few points he made during his presentation that shows just how powerful the microbiome in all of u

Georgia Hurst (@ShewithLynch), Amy Byer Shainman (@BRCAresponder), and Ellen Matloff (@MyGeneCounsel) are involved in raising awareness for Hereditary Cancer by holding the #Hcchats (@Hc_chat) on Twitter. You can catch the next Tweetchat April 29th at 9pm ET with special guest Dr. Sharon Bober (@DrSharonBober), an expert in sex after Oophorectomy or Hysterectomy. Georgia Hurst shares her and her family's experience having Lynch Syndrome and how she started her non-profit, IHaveLynchSyndrome.com. Amy Byer Shainman describes her documentary, Pink and Blue, and being a BRCA1 positive previvor. Ellen T. Matloff is the President and CEO of MyGeneCounsel and shares her insight on the importance of understanding genetic testing and genetic counseling and we all weigh in on Angelina Jolie's impact on both.

News stories include a very bizarre story about Gabriele D’Annunzio, a dead national war hero whose DNA was reconstructed. New advances in treatments for the most common form of muscular dystrophy, myotonic dystrophy. The last story is about a biotech company, GenomeNext, that has achieved analyzing genomes at the speed of 1,000 per day.

The 100,000 Genomes Project has commenced. Genomics England is heading the project which has plans to sequence 100,000 whole genomes from NHS patients by 2017. This project aims to bring benefit to patients, create an ethical and transparent programme based on consent to enable new scientific discovery and medical insights and kickstart the development of a UK genomics industry.

Presentations at the Rare Disease Day 2015 are recapped. Presentors include Dr. Anton Alerte, Juliet and Tara Lynn, Dr. Caroline Dealy and Ethan Talbot. Check out joshuafrase.org, Favafoundation.org, and rarediseases.org for more information.

Attend the Rare Diseases Awareness Event 2015 at UCONN Health Center on February 25th. Sophia Walker explains the celebration of individuals who have rare diseases and the many researchers and physicians who are fighting to find cures for these conditions. Listen to patients, doctors, and students share their experiences and learn about rare diseases! Everyone is welcome and the free event is geared towards the general public. Email [email protected] for any questions. Visit rarediseaseday.us, rarediseaseday.org and rarediseases.org for more information.

This episode features an interview with Noel Lloyd who is the communications manager from the Alliance for Aging Research. The Alliance for Aging Research is the leading nonprofit organization dedicated to accelerating the pace of scientific discoveries and their application to vastly improve the universal human experience of aging and health. Noel explains how the Alliance advances science and enhances lives through education campaigns and working with legislation. You can read the blog post Noel references about Obama's Precision Medicine Initiative that I discussed last episode of DNA Today along with the 21st Century Cures Initiative blog post. Check out the nonprofit on their website, agingresearch.org, and follow their activties on Twitter @aging_research.

President Barack Obama proposed the Precision Medicine Initiative. It has a $215 million investment in the President’s 2016 Budget. This initiative focuses on the making major advances in personalized medicine. This means tailoring the treatments based on specific characteristics of individuals, such as a person’s genetic makeup, or the genetic profile of an individual’s tumor.

Researchers have identified a genetic mutation accountable for a metabolic disease among Inuits in northern Canada. New research has provided new insight into fragile X syndrome, learn more about the syndrome at fragileX.org. January is National Birth Defect Month! I go over the CDC's top 10 most common birth deffects in the US. Prevention of birth defects is presented.

All about genes! New study finds gene variants may be a contributor to PTSD. New genes have also been discovered to be linked to triple-negative breast cancer. Scientists have successfully used light to trigger REM sleep in mice.

First news story is about research on how genetics can affect the brain and therefore behavior. Another study has been published regarding the mechanism that regulates dopamine levels in the brain, which all comes down to one gene. Last news story is about DNA traveling into space.

A study finds meditating cancer patients are able to affect the makeup of their DNA, hear how they are able to do this. Learn about the Klinefelter Syndrome, which is the presence of an extra X chromosome in males.

A lesson on what epigenetics is. A news story reveals that long-term endurance training alters the epigenetic pattern of the human skeletal muscle. Dr. Brian Chadwick, Assistant Professor of Biological Science at Florida State University, presented his research of X chromosome inactivation at UCONN and I give the highlights and share how it relates to epigenetics.

A plant has more foreign DNA, than its own DNA, how is that possible? A new DNA reading device was developed that is a thousands of times smaller than width of a single human hair. How might his change personalized medicine? The effects of caffenine on embryos are explored.

The event, The Drama of DNA is recapped. It was an enactment of genetic testing sessions and interactive discussion of fictional and real-life drama in the world of genetics. In the news, scientists discover new gene for devastating form of epilepsy. The event and news story both focus on whole genome sequencing.

Dr. Charles Lee, the scientific director at JAX Genomic Medicine, skyped my genetics class today, so I recap what he shared including the question of mine he answered. Members of the UCONN Genetic Engineering Team join the show. They discuss attending the International Genetically Engineered Machine annual competition. This competition gives students a chance to modify an organism that can help society solve some of the problems facing us today. Join them at their meetings 7pm in the UCONN Student Union room 322. Any questions can be directed to jeffrey.o'[email protected] or [email protected].

A summary of Cornell University's Dr. Andrew Grimson's "The Messenger's Tale: Decoding the 3'UTR" presentation at UCONN starts the show. Highlights from Cleveland Clinic's Medical Innovation Summit are innovations in cancer therapy. New research supports the idea that specific groups of microbes living in our gut could be protective against obesity - and that their abundance is influenced by our genes. A new study finds people with a variant in the CETP gene may survive the longest.

Dr. Rachel O’Neill is the Director of the Center for Genome Innovation. She is also a professor and head of Genetics and Genomics in the Department of Molecular and Cell Biology at the University of Connecticut. We discuss her laboratory which researches molecular genetic and cytogenetics techniques to study centromere determinance. Dr. O'Neill shares her findings in DNA contamination and species-specific placental development and evolution. She gives insight on how UCONN and Jackson Laboratory is contributing to genetics. Learn more about Dr. Rachel O'Neill and her laboratory on her website, Roneill.lab.uconn.edu.

A recap of the pigeon genetics presentation from Mike Shapiro kicks off the show. An interview with Denise Anamani, the Academic Coordinator of Laboratory Education for the students in the Diagnostic Genetic Sciences Program at University of Connecticut. News stories include the epigenetic impact of binge drinking and the number of genes found to be associated with height.

This episode is dedicated to gene therapy. A lesson kicks off the show on gene therapy followed by a presentation of both sides of the debate whether this gene therapy is ethical and worth pursuing as a treatment. Two news stories show the advancements of gene therapy today in research. Discovered a gene mutation that causes rare premature aging disease called dyskeratosis congenita. Long-term treatment success using gene therapy to correct a lethal metabolic disorder has been reached.

The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month.

News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored.

Search Links edit widget html Tweets Did you know the tumor suppressor #gene, #TP53 is seen in about 50% of #cancers? Did you know it's estimated that 30% of all existing global data is #healthcare related? #bigdata What does role does #genetics play in stress and #heartconditions? I explore the research published: https://t.co/ze3H6LBvHf Biology + computers = #bioinformations. Check out what the field consist of in this podcast episode: https://t.co/983UwN8539 Live NOW > http://t.co/8cwVrcvMQs How many gene #genes are associated with #height? Find out on this #podcast episode: http://t.co/xLU3uoVjYu #TBT 1 year ago > The Grand Opening of @jacksonlab for #Genomic Medicine. My show review of the initial conference: http://t.co/xWKu596ibZ What is the effects of #caffeine on #embryos? I explore on this episode of #DNA today? http://t.co/nlhBXEjNRU Older Follow @DNApodcast post new entry #6 JACKSON LABORATORIES FOR GENOMIC MEDICINE OPENING 10/13/14 DateMONDAY, OCTOBER 13, 201

Researchers may have found a gene that has the power to slow the aging process by targeting specific genes. A method to keep stem cells in their pluripotent state for longer was also discovered. Scientists have claim to idenitify the gene that causes Emery-Dreifuss muscular dystrophy which is an incurable muscle-wasting disease. Feature genetists of the week are the duo James Watson and Francis Crick. Genetic disorder of the week is Down Syndrome.

A new inherited neuromuscular disorder has been discovered. Rosalind Franklin's contribution to the discovery of the structure of DNA is explored, her role may be bigger than you think. A lesson of personalized medicine is taught covering the basics of the concept.

News stories are covered with the most major being the announcement of Google Baseline, a projected aimmed to understand the genetics behind a healthy person. The first International Genetic Genealogy Conference took place August 15-17. A mutated gene has been discovered that allows humans to survive at a high altitude.