DNA Today: A Genetics Podcast

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! 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. In this discussion we will be explaining the abortion laws and how this decision specifically affects genetic counseling with Laura Hercher. Laura is a seasoned genetic counselor and the host of ​​The Beagle Has Landed podcast. She is also on the team at Sarah Lawrence College’s Genetic Counseling program coordinating student research, directing the ethics course and facilitating the weekly current events discussion. In the week leading up to this episode we asked our listeners to submit their questions on our social media channels, be sure to listen to see if your question was answered! On This Episode We Discuss: Trigger laws and when they go into effect The effect of this decision on pro-choice states (CT, NY, CA, etc) How this ruling disproportionately affects people who can’t afford to travel for abortions Genetic counseling in a post-Roe world and how this decision affects the field The legal ramifications for genetic counselors discussing patients’ options in abortion banned states How the overturning of Roe is going to impact pedigrees Receiving care (medication, D&C, D&E) in states that now have abortion bans How this affects pregnancies that are non-viable and people with conditions where a pregnancy is life-threatening Recommended resources/organizations for people to donate money or volunteer Following this episode, DNA Today made a donation to The National Network of Abortion Funds, which aims to remove barriers to abortion access. We encourage our listeners to do the same here. To stay up to date on the latest developments in the overturning of Roe v Wade and hear Laura’s thoughts on these issues, follow her on Twitter and LinkedIn. You can also follow her podcast, The Beagle has Landed, on Twitter and Facebook. Stay tuned for the next new episode of DNA Today on July 8th, 2022 where we’ll be welcoming Atticus Shaffer, who played Brick Heck on the ABC sitcom The Middle, to discuss his experience with Osteogenesis Imperfecta ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

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”. The webinar is sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Gender Affirming Care in Genetic Counseling is a panel discussion and interactive Q & A with host and genetic counselor Kira Dineen, diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, prenatal genetic counselor at Sema4, Marney Brillinger, and transgender patient advocate, Holden Bender-Bernstein. Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients. On This Episode We Discuss: • Improving clinic experiences for transgender and gender non-conforming patients • Beyond standards: gender affirming family history collection • Challenges to providing gender affirming care in existing service delivery models • Education and advocacy in the genetics and genomics community The PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes. Stay tuned for the next new episode of DNA Today on July 1st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

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&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! As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday’s June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it’s about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group. Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss: Why it’s important to denote someone’s sex assigned at birth Incorporate same sex couples utilizing a donor or donors to concieve in pedigrees Best ways to indicate that someone is transgender on pedigrees Representing gender non-conforming or non-binary people on pedigrees Making note of family members’s pronouns PhenoTips features to support genetics professionals and the LGBTQIA+ community How pre-visit questionnaire aids with time saving accurate pedigrees Check out the GH4GH that Orion mentioned during the interview, including those meeting notes. Be sure to follow PhenoTips on Twitter, Facebook. We also recommend following Orion Buske and Erica Peacock on Twitter. Stay tuned for the next new episode of DNA Today on June 24, 2022 where we’ll be dropping an installment of the PhenoTips Speaker Series! The topic of this week’s series is building gender affirming care in genetic counseling! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

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. Bryan Kelly is 36 years old and living with propionic acidemia. 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. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases. On This Episode We Discuss: How Propionic and Methylmalonic Acidemia affect the body PA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMA The goal of HemoShear’s investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA community Living with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseases If you’re interested in learning more about HemoShear’s HST5040 therapy for PA and MMA, check out this Fact Sheet, and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com. Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can learn more about here. Stay up to date with the latest developments in their trials by following HemoShear on Twitter and LinkedIn. To learn more about Bryan’s journey with PA and mindful meditation, visit his website, and be sure to follow Be Present Lifestyle on Twitter, Facebook, and Instagram. Stay tuned for the next new episode of DNA Today on June 17, 2022, where we’ll hear from Erica Peacock and Orion Buske about building inclusive pedigrees! Our following episode on June 24th will be a continuation of this conversation with diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, and transgender patient advocate, Holden Bender-Bernstein. Can’t wait? Tune in live to the recording on Thursday, June 24th. Register for free here. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

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 researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc., a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications. Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine. On This Episode We Discuss: Facioscapulohumeral Muscular Dystrophy (FSHD) Types of FSHD Causes of FSHD Digenic inheritance patterns Genome optical mapping vs. whole genome sequencing The genetic etiology of FSHD type 1 vs 2 Benefits of ordering FSHD testing through PerkinElmer Genomics Clinical trials for FSHD When the FSHD Society predicts that treatments will be available for people with FSHD To learn more about genetic testing for FSHD, visit PerkinElmer Genetics and the FSHD Society and be sure to follow the FSHD Society on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on June 10, 2022. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

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. In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease. Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen. Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com. The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three best- and first-in class medicines and more than 40 drugs in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life. On This Episode We Discuss: Susannah’s journey to a diagnosis Kif1A – and what a pathogenic variant (mutation) in this gene means Living with a nano-rare disease Susannah’s courage and joy Finding a treatment for Susannah To hear other episodes of the n-Lorem “Patient Empowerment Program”, subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org. Stay tuned for the next new episode of DNA Today on June 3rd! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

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. 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 University of Cape Town, exploring the genetics of obesity. She has authored 3 books, It’s not just your Genes, the SNP Journal, and Genes To Plate and has been published in peer-reviewed journals. As a true practitoner-scientist, she is passionate about translating the science of nutrigenomics into clinical practice and teaching everyone from students at Rutgers University to clinicians around the world. On This Episode We Discuss: Aspects of our metabolism and eating behaviors that have identified genetic links (Snacking v binging, feeling full, storing calories, etc.) Specific genes that contribute to BMI The role of epigenetics in nutrigenomics Famine studies revealing nutrigenomics insights How nutrigenetic tests work Utilizing information from nutrigenetic tests for personalized diet and exercise plans “DNA Dieting” Genetic conditions that have metabolic symptoms The future of nutrigenomics Check out Dr. Joffe’s podcast, “The Power of Genetics”, in your fav podcaster player. And keep your eye out for a guest appearance from our host, Kira Dineen! Keep up with our guest, Dr. Yael Joffe on Instagram and LinkedIn, and stay up to date on the latest developments at 3X4 Genetics by following them on Twitter, Instagram, LinkedIn and Facebook. Stay tuned for the next new episode of DNA Today on May 27, 2022 which will be extra special because we’re dropping the pilot episode of The Patient Engagement Program by n-Lorem, a brand new podcast that is co-produced by our host, Kira Dineen! This podcast focuses solely on the needs of nano-rare patients, and you may recognize the voice of the show’s host, Dr. Stan Crooke, who was featured on Episode #141 of DNA Today! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

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. 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 sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare. Khalida Liaquat, MS, CGC, is a graduate of the Sarah Lawrence College genetic counseling program and is certified by the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts. Khalida is a Senior Manager of Genomics Services at Quest diagnostics and supports the Athena Diagnostics and Blueprint Genetics laboratories. Her clinical work history includes serving as clinical prenatal and pediatric genetic counselor at Kings County Hospital Center and Woodhull Medical Center in Brooklyn, NY. Her special interests include patient advocacy, variant sciences and education. Khalida is an active member of the National Society of Genetic Counselors. Ariana Lichtenstein, MS, graduated cum laude from Vanderbilt University with a degree in Neuroscience. Her passion is the genetics of epilepsy disorders, and she conducted research on dopamine transporter protein in the Department of Pharmacology while at Vanderbilt. She is the Director of Business Development at Blueprint Genetics, managing relationships with BioPharma clients based in the Americas. Ariana has spent the past decade on the commercial side of the molecular diagnostics industry, working for both prenatal and postnatal commercial laboratories. On This Episode We Discuss: Inherited retinal dystrophies (IRD) The My Retina Tracker Program and registry The benefits of joining rare disease registries The privacy of registries Informed DNA and its benefits How knowing one’s IRD gene mutation help them qualify for clinical trials Blueprint Genetics’ testing panel Benefits of genetic testing for IRD patients Want to learn more about inherited retinal dystrophies (IRD)? Blueprint Genetics is hosting a webinar on May 24th, 2022. Register here. Head over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn. Connect with our guests, Khalida and Ariana on their social media channels: Khalida's Twitter, Khalida's LinkedIn, and Ariana's LinkedIn Stay tuned for the next new episode of DNA Today on May 20, 2022 where we’ll be joined by Yael Joffe, host of The Power of Genetics podcast, to discuss nutrigenomics! In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

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. in biological sciences from the University of Tennessee Knoxville and then went on to get a masters degree in genetics at Case Western Reserve University. Karen received her Ph.D. in genetics and computational biology from Duke University. She was named as “One to Watch” in the 2020 Nature's 10. Dr. Adam Phillippy is a Senior Investigator and Head of the Genome Informatics Section at the National Human Genome Research Institute (NHGRI). His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, alignment, clustering, forensics, and metagenomics. He received a B.S. in computer science from Loyola University Maryland in 2002. He first worked as a bioinformatics engineer at The Institute for Genomic Research (TIGR) and later received a Ph.D. in computer science from the University of Maryland in 2010. After graduate school he led a bioinformatics group at the National Bioforensics Analysis Center before joining NHGRI in 2015. In 2019, he was awarded tenure by the NIH and received the U.S. Presidential Early Career Award for Scientists and Engineers. On This Episode We Discuss: The recent announcement about the completion of the human genome sequence The name for this new human reference genome and what the letters stand for How T2T-CHM13 complements the previous human reference genome, GRCh38 Advantages of “long read” over “short read” DNA sequencing technologies Why telomeres and centromeres are hard to sequence Valuable information that we can learn from sequencing centromeres and telomeres The future of variant classification Linking newly sequenced genes to genetic conditions or traits If you’re interested in learning more about the newly completed human genome, check out this article and newsletter! Stay up to date with the latest advancements Be sure to follow Dr. Phillippy, Dr. Miga, and National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements! Stay tuned for the next new episode of DNA Today on May 13, 2022 where we’ll be joined by ​​Khalida Liaquat and Ariana Lichtenstein of Blueprint Genetics to discuss the My Retina Tracker Program! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

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, community-based effort to generate the first complete assembly of a human genome, filling in these unresolved gaps. Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications, a few of which we are chatting about today. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). On This Episode We Discuss: Dr. Green’s involvement in the Human Genome Project (HGP) The first chromosome to be completely sequenced When the human genome sequence was completed The Telomere to Telomere (T2T) Consortium What made the last 10% of the human genome difficult to sequence How many genomes were studied for the HGP How the fully complete genome sequence impacts people The NIH’s All of Us Reacher Program Learn more about the Human Genome Project and what we talked about on this episode at genome.gov. If this episode piqued your interest, check out the articles below to learn about the most recent advancements in the Human Genome Project, and the work of the T2T Consortium. https://www.genome.gov/about-nhgri/Director/genomics-landscape/april-7-2022-the-human-genome-sequence-is-now-complete https://www.scientificamerican.com/article/completing-the-human-genome-sequence-again/ https://www.genome.gov/10000666/1997-news-release-pendred-syndrome-gene Be sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements! Stay tuned for the next new episode of DNA Today on May 6, 2022 where we’ll continue discussing the Human Genome Project and the Telomere to Telomere Consortium with Drs. Miga and Philippy. New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) The Big Biology podcast dives deep on some of the most provocative and exciting topics in biology today, in a fun and accessible way. In each episode, hosts Art Woods and Marty Martin, biology professors themselves, talk to leading scientists and journalists from around the world about the biggest, most cutting-edge topics in biology. From human consciousness, human origins, new directions in evolutionary theory, to the emergence and spread of zoonotic diseases like COVID-19, and much more! Whether you are a researcher, teacher, student or simply curious about science and biology you’ll love the entertaining and deep conversations about biology and the exposure to new research they bring. Learn more at BigBiology.org, and subscribe, rate and review on, Spotify, Apple Podcasts, Google Podcasts, or wherever else you get your podcasts. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Applications are closing for the summer cohort, and there are spots available for fall 2022. (SPONSORED)

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. 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 young kids learn through play about the fascinating world around them. Over the years, Dr. Ryan has taught science to all age groups, both in and out of the classroom, helping toddlers learn about their world and college students define theirs. She is an active member of the chemistry education community and is currently a committee member of the International Activities Committee for the Division of Chemical Education. Ryan earned her Ph.D. in the Learning Sciences and her M.S. in Analytical Chemistry from the University of Illinois at Chicago. She earned her B.S. in Chemistry from Saint Mary’s College. On This Episode We Discuss: Thoughts on correcting kids if they have an incorrect understanding What to do if kids ask questions that we don’t know how to answer Recommended resources for parents/caregivers to foster scientific curiosity in their children from a young age The recommended age kids should start learning about STEM concepts The inspiration behind Dr. Ryan’s book, “Lets Learn About Chemistry” Advice for being a science communicator, especially on social media Want a free copy of “Lets Learn About Chemistry”? Head over to our social media to enter our giveaway! Search “DNA Today” on Twitter, Instagram, and Facebook. For great learning activities in the sciences, book recommendations, and more, follow Dr. Ryan on Instagram and visit her website letslearnaboutscience.com. Also don’t forget to mark your calendar for Monday, April 25th. It’s DNA Day! At 6pmET we will be co-hosting a virtual event with Dr. Ryan. She will be our guide for doing these at-home DNA experiments together! Register here. Stay tuned for the next new episode of DNA Today on April 29, 2022, where we’ll be discussing the completion of the human genome with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH)! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday. The Big Biology podcast dives deep on some of the most provocative and exciting topics in biology today, in a fun and accessible way. In each episode, hosts Art Woods and Marty Martin, biology professors themselves, talk to leading scientists and journalists from around the world about the biggest, most cutting-edge topics in biology. From human consciousness, human origins, new directions in evolutionary theory, to the emergence and spread of zoonotic diseases like COVID-19, and much more! Whether you are a researcher, teacher, student or simply curious about science and biology you’ll love the entertaining and deep conversations about biology and the exposure to new research they bring. Learn more at BigBiology.org, and subscribe, rate and review on, Spotify, Apple Podcasts, Google Podcasts, or wherever else you get your podcasts.

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. 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. Dr. Kathy Salari is a maternal-fetal medicine subspecialist with expertise in caring for high-risk pregnancies. Her clinical work primarily focuses on reproductive genetics and fetal imaging. She received her Bachelor’s degree in Molecular Genetics from U.C. Berkeley in 2001 and her medical degree from U.C. San Diego in 2008. She then went on to complete her residency in Obstetrics & Gynecology followed by a fellowship in Maternal-Fetal Medicine at the University of Michigan in 2014. Following completion of her training, she began her clinical career as a maternal-fetal medicine specialist in the San Francisco Bay Area. In a period of two years she was named Chair of Clinical Genetics as well as the Director of Fetal Imaging and Perinatal Genetics at Palo Alto Medical Foundation. During her tenure as the director of a high volume fetal imaging center and maternal-fetal medicine group, her passion for timely and accurate diagnosis of birth defects and delivery of evidence-based obstetric care was emboldened. Driven by a vision for bringing subspecialty reproductive health expertise to every pregnant person across the country, she founded Mitera in 2019. By employing a telehealth platform for reproductive genetic testing, she hopes to bridge gaps in maternity care and broaden access to the responsible delivery of diagnostic technologies across the country. On This Episode We Discuss: Inspiration behind Mitera Genetic conditions included in Mitera’s 23Pears carrier screening kit Kira’s experience with 23Pears and what consider she is a carrier of Informed consent process for ordering genetic testing How results are shared with patients Information included in Peaches&Me (Non-Invasive Prenatal Screening) Why Mitera’s tests do not include microdeletions (NY Times article referenced) How patients can order Mitera testing >>>>> Insert YT Mitera Video <<<<<< Check out the NY Times article mentioned during the conversation. To learn more about reproductive genetic testing and order a Mitera test, visit their website and check them out on Instagram, Facebook, and LinkedIn, and be sure to connect with our guest, Dr. Kathy Salari, on LinkedIn! Be sure to check out our social media channels this week as we’ll be giving away a Mitera Carrier Screening Kit! Stay tuned for the next new episode of DNA Today on April 22, 2022 where Dr. Stephanie Ryan will be sharing at-home experiments that you can do in honor of the upcoming DNA Day! You can also join us for our DNA Day celebration on April 25th at 6pmET, where we will extract DNA from fruit together! Register for the Zoom here. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Questions/inquiries can be sent to info@DNApodcast.com. If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday. The Big Biology podcast dives deep on some of the most provocative and exciting topics in biology today, in a fun and accessible way. In each episode, hosts Art Woods and Marty Martin, biology professors themselves, talk to leading scientists and journalists from around the world about the biggest, most cutting-edge topics in biology. From human consciousness, human origins, new directions in evolutionary theory, to the emergence and spread of zoonotic diseases like COVID-19, and much more! Whether you are a researcher, teacher, student or simply curious about science and biology you’ll love the entertaining and deep conversations about biology and the exposure to new research they bring. Learn more at BigBiology.org, and subscribe, rate and review on, Spotify, Apple Podcasts, Google Podcasts, or wherever else you get your podcasts.

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! 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 genetic testing. On This Episode We Discuss: The process and science behind genetic testing Types of conditions that can be tested for The difference between genotyping and sequencing Direct-to-consumer genetic testing Social implications of testing The future of genetic testing If you enjoyed James’ interview style be sure to subscribe to The Science of Everything Podcast! Keep up to date with James and the podcast on Facebook and LinkedIn. Stay tuned for the next new episode of DNA Today on April 15, 2022 where we’ll be discussing reproductive DNA testing with Mitera! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED) If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday.

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. 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"! Dr. Emanuel has spent the past decade developing high-throughput spatial profiling technologies including extending Vizgen’s MERFISH (Multiplexed Error-Robust Fluorescence in situ Hybridization) technology to profile 10,000 genes in the same sample. He received dual undergraduate degrees from the University of Colorado, and a Ph.D. in Biophysics from Harvard University. On This Episode We Discuss: Single-cell spatial genomics Difference between sequencing genes and analyzing spatial gene expression Insight for researchers through gene expression analysis MERFISH & MERSCOPE Limitations of the testing Areas of research that MERFISH can be applied to How can researchers get access to a MERSCOPE Platform If you’re interested in learning more about Vizgen’s technology, visit their website to play around with the MERSCOPE Vizualizer, and check out their papers on mapping the brain and how MERFISH was demonstrated on 10,000 genes. Keep up to date with the latest developments at Vizgen by following them on Twitter, Facebook, and LinkedIn, and connect with our guest, Dr. George Emanuel on Linkedin! Stay tuned for the next new episode of DNA Today on April 8, 2022 where our host, Kira Dineen, will be on the other side of the mic. She will be interviewed by James Fodor of The Science of Everything Podcast about genetic testing. New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED) Sema4 offers an extensive portfolio of health information solutions, including pre-clinical and clinical trial support, analytics for actionable insights, and advanced sequencing services. Sema4’s family of precision oncology products and services, Sema4 Signal®, provides data-driven care solutions with advanced analytics, digital tools, and exome-based somatic and hereditary cancer genomic tests. Learn more about their mission at Sema4.com. Sema4, a patient-centered health intelligence company. (SPONSORED)

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.  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. On This Episode We Discuss: The difference between WES and WGS How WGS differs between laboratories  The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expecting Situations in which trio testing is helpful for WGS Prenatal WGS The future of newborn screening WGS for hereditary cancer syndromes How people learn more about PerkinElmer’s WGS Learn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn. Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host’s posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira’s textbooks in undergrad!  Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.   DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.  Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED) Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by  analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)