Dna Today: A Genetics Podcast

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 Association of People with Disabilities, and Special Olympics. We are honored to have Lauren on the show, and the timing couldn’t be more perfect with World Down Syndrome Awareness Day

This week we’re joined by Dr. Brian Shirts to discuss ConnectMyVariant, a service that 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 clinicians. In his clinical role, he is one of a small group of geneticists and laboratory pathologists who supervise BROCA and ColoSeqTM tests for hereditary cancer risk at the University of Washington.On This Episode We Discuss:Common cancer genesThe impor

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? Aspects of metabolizing drugs that pharmacogenomic screening evaluates (i.e. Toxicity, Lack of Efficacy, Hypersensitivity)How pharmacogenomics testing decreases the risk of adverse drug reactionsGenetic counseling for pharmacogenomicsRoadblocks (ethical, social, legal, privacy) impacting widespread use of pharmacogenomic testingPicture Genetics’ PGx kitYou can check out the CPIC Guidelines and the FD

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-development content. Previously, Keith has worked as an award-winning journalist, a social media and public relations strategist, and a senior executive at one of Canada’s largest companies. He has written and edited several books, and serves as the president and publisher of FanReads Inc. His newest self-help book is Winnin

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.Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President &

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. 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 affairs. He has been the architect of rhAC clinical development program from its inception and is responsible for clinical and translational development, medical and patient affairs, as well as medical and scientific discussions with FDA and EMA with a

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. 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 degree from the National Autonomous University in Mexico City, and completed his residency in pediatrics at the University of Texas Health Science Center and held fellowship in allergy and immunology at

On this week’s episode of DNA Today, we are joined by 2 scientists from Phase Genomics. 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 Scientist and was part of the faculty at Johns Hopkins University where he was the Principal Investigator of a laboratory focused on using the ribosome as a platform for understanding neurobiology. He received his PhD from the University of Washingto

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  us on Twitter, LinkedIn, and Instagram. This has been posted at 9am on January 21st and will end on February 4th. Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores. 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. He is a co-founder and CEO of Allelica, which created a software to help clinical genetics labs to perform polygenic risk score analysis.On This Episode We Discuss:Defining polygenic risk scores (PRS)? How PRSs are empowering the next generation of clinical genomics  Types o

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 insights.Dr. Arun is a Professor in the Department of Breast Medical Oncology, Co-Medical Director of the Clinical Cancer Genetic Program, and Section Chief of Breast Genetics, Prevention, and Screening at the University

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! 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 the NY Times article that was featured on the front page this week. The recorded audio is not top quality, which is why we didn’t release it as a podcast episode, however the conversation is top quality. To kick off 2022 and celebrate national Blood Donor Month, genetic counselor Radhika Sawh joins our host Kira Dineen on t

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 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 Illumina, most recently as Staff Segment Marketing Manager Oncology. Sandra holds a Ph.D. in molecular biomedicine, is a mother of two young children, and breast cancer survivor who advocates for genetic testing in developing countries and among ethnic minorities.Learn more about Sandra by reading this Illumina article about her journey, or check her out on LinkedIn. Did today’s episode topic peak your interest? Read the article, Inherit

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. On This Episode We Discuss:How Parkinson’s Disease (PD) affects the bodyGenes that play a role in the development of PD 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 How to achieve more inclusivity with research in the PD spaceLearn more through the “Substantial Matters: Life and Science of Parkinson’s” podcast. Here is a list of episodes specifically about the PD GENEration study we have been discussing. Check out more about the PD GENEration on the Parkinson’s Foundations website, including how to enroll in the study. If you have questions about enrollment send them to genetics@parkinson.org.PD GENEration también ofrece pruebas genéticas y asesoramiento en Español. Para más información visite http://p

On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. On This Episode We Discuss:Genetic causes of Prader-Willi Syndrome (PWS)Challenges faced by caregivers of patients with PWSPWS symptom management Harmony Bioscience’s phase 2 clinical study in PWSRequirements for study participationCheck out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey.Refer your patients to Knowrare to join the study here.  Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA T

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. As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventable and/or treatable conditions. While the details and timeframe of this transition is unknown, it is clear that genetic counselors are poised to champion this change and transformation. To prepare for this fast

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”.  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 with digital tools is necessary in order to provide essential services while mitigating burnout, but genetic counselors and genetic departments face significant barriers

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. On This Episode We Discuss:Causes and prevention of birth defects Teratogens Impact of teratogenic exposure on fetal developmentMedications and vaccinations during pregnancyExposure to THC during pregnancyThe TERIS databaseCheck out TERIS, a clinical electronic resource that contains information on the teratogenic risks of over 1,700 medications and other environmental exposures and infections, including 200 of the most frequently prescribed drugs. Use code “DNAToday” for your free no obligation 2-week evaluation license. To learn more, visit the TERIS website, or check them out on Twitter,Facebook, and LinkedIn, and be sure to navigate to their COVID-19 virus and vaccine summary for more information and Teratology studies. In addition to serving as the co-director of TERIS, Dr. Alwan holds profe

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. In honor of breast cancer awareness month, Kira Dineen is joined by two representatives from Black Cancer Genes, Erika Stallings and Dena Goldberg (aka DenaDNA). Erika Stallings is an attorney, writer and BRCA awareness advocate. In June 204 she learned that she carried a BRCA2 gene mutation, a hereditary cancer mutation that causes up to an 85% lifetime risk of developing breast c

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. 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. On This Episode We Discuss:Overview of ALSHow ALS is diagnosedCauses of ALSGenetic testing for pathogenic variants Expansion of the list of causative genes and variants for ALSUncovered trends in age at onset and rate of progr

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. Guests 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 Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, the country’s first and largest training program for genetic counselors. Hercher is a writer and commentator with publications including articles in Wired, Aeon and Scientific American as well as peer reviewed journals. She is a co-founder of the DNA Exchange, a blog for the genetic counseling community founded in 2009, which has grown to over 100,000 views in 2017.Sally Rodríguez is a licensed and board-certified genetic counselor wh