Exploring the evolution of caring for females with Ornithine Transcarbamylase Deficiency with Drs. Annette Feigenbaum and Joshua Baker.
#281 Tay-Sachs with Dr. Matthew Goldstein
Episode drop of “It Happened To Me” sharing the story of a heartbreaking Tay Sachs diagnosis inspiring a career in carrier screening.
#280 Celebrating Down Syndrome with Parent & Nurse Jenness Stock
With National Down Syndrome Awareness day coming up on March 21st Jenness Stock, a patient advocate, parent and nurse, shares her family’s story.
#279 Reflecting on 50 Years of Greenwood Genetic Center
Lori Bassett, a board-certified genetic counselor and the Director of Communications at GGC, commemorates the 50th anniversary by sharing GGC’s remarkable contributions to genetics.
#278 DNA Dialogues: Rare Disease Family Experience
New podcast launch! Check out the first episode of the official Journal of Genetic Counseling Podcast, “DNA Dialogues”.
#277 Trisomy 18 with Parent Sarita Edwards
Fellow podcaster (Being Rare) and the CEO/President of the E.WE Foundation shares her experience parenting a child with Trisomy 18 and the resources she created for fellow parents.
#276 Targeted DNA Methylation Sequencing with Wasatch BioLabs
Co-Founders Chad Pollard and Dr. Jonathon Hill share the importance of DNA methylation, intricacies of targeted sequencing, and future of epigenetic analysis.
#275 ALS Genetics with Dr. Patrick Short
CEO and Co-Founder of Sano Genetics shares about the genes that play a role in ALS development and the “Light The Way” free genetic testing program.
#274 Wolfram Syndrome with Stephanie Snow Gebel
Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
#273 ENPP1 Deficiency Disorders with Inozyme
Inozyme’s Chief Scientific Officer Dr. Yves Sabbagh and Co-President of GACI Global Christine O’Brien share their insight on these conditions.
#272 Clinical Trials for One Patient with Dr. Joe Gleeson
Episode drop of N-Lorem’s “Patient Empowerment Podcast” discussing the importance of genomics for neurology.
#271 Genetic Optic Neuropathies with Dr. Andrew Carey
Episode drop of “It Happened To Me” exploring the genetics of rare optic neuropathies.
#270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg
The genetic counselor at NextBio, a South African Biotech company, shares insight on preimplantation genetic testing (PGT) and testing on products of conception (POC) after a miscarriage.
#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci
“The Spring of Sight'' author discusses how computer vision technology could be utilized as a tool to diagnose genetic diseases based on pictures of physical features.
#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy
Praxis Genomics’ Chief Medical Officer explains how these genetic technologies can provide advantages over traditional testing methods.
#267 Is Genetic Ancestry Useful for Carrier Screening?
Prenatal Genetic Counselor Blair Stevens provides insight on if we should continue utilizing genetic ancestry in the context of carrier screening.
#266 Genetics Wrapped 2023
Drs. Eric Green and Brendan Lee join our host Kira Dineen for our annual reflection and recap on the biggest genetics/genomics advancements this year!
#265 Whole Genome Sequence Analysis with Nebula Genomics
Nebula Genomics Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome!
#264 XXY (Klinefelter Syndrome) with Ryan Bregante
Living with XXY founder Ryan Bregante shares his personal experience with the condition and the impact of his organization on the community.
#263 Ehlers-Danlos Syndromes with Izzy Kornblau
Cardio Genetic Counselor, YouTuber, and Patient Advocate Izzy Kornblau shares her expertise in Ehlers-Danlos Syndromes, she has personally been diagnosed with hypermobile EDS.