Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
All in Interview
#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.
#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.
#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.
#256 Genetic Counselor Burnout with Tiana Rogers and Nira Johnson Part 2
Genetic counselors, Tiana Rogers and Nira Johnson get personal about their experience with burnout.
#255 Genetic Counselor Burnout with Tiana Rogers and Nira Johnson Part 1
Genetic counselors, Tiana Rogers and Nira Johnson get personal about their experience with burnout.
#254 Bardet Biedl Syndrome with The Alms
Episode drop of It Happened To Me with parents of a child with Bardet Biedl Syndrome, a rare disease affecting vision, obesity, extra fingers/toes and other symptoms.
#253 Inborn Errors of Immunity with Felicia Morton and Torry Howell
Rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell, join us to talk about inborn errors of immunity including chronic granulomatous disease.
#252 Pierre Robin Syndrome with Corinne Merlino
DNA Today’s Communication Lead, Corinne Merlino, shares about her rare congenital birth defect that affects craniofacial development and how it influenced her to become a genetic counselor.