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.
#262 Genetic Counseling in the Digital Age with Doron Behar
Exploring the “Genomic Wallet” to have our genetic information accessible with Igentify’s CEO, Doron Behar.
#261 Tuberous Sclerosis Complex with Dr. Ian Miller
Marinus Pharmaceuticals’ Vice President in Clinical Development shares his insight on TSC including the status of the clinical trial.
#260 PhenoTips: Population Genomics in Clinical Practice
Drs. Eric Green, Julian Barwell, and Fiona Brinkman discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.
#259 NSGC 2023 Recap and Reflections
Genetic Counselors Catherine Mayo and Kira Dineen discuss this year’s NSGC conference in Chicago including their favorite sessions.
#258 Human Touch of Variant Interpretation with Blueprint Genetics
Exploring the human element of report writing and interpretation and report writing of genetic testing with genetic counselors Meena Mahey Kumar and Laura Fuqua.