Dr. Joanne Donovan, Chief Medical Officer at Edgewise Therapeutics, discusses Becker Muscular Dystrophy (Becker) and emerging treatments.
All in Scientist
#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
The former NIH Director shares about his brand new book, The Road To Wisdom, including leading the Human Genome Project, COVID-19 pandemic, and more.
#303 RNA Analysis with Ambry Genetics
Dr. Rachid Karam explains how RNA testing increases diagnostic yield and reduces variants of uncertain significance in cancer and exomes.
#299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita
The role of the ATP6V0C gene in epilepsy is explored with researcher Dr. Kari Mattison and v-ATPase Alliance’s Dr. Luis Miguel Oliveira and Ana Rita.
#297 Exome Reanalysis with Ambry Genetics
The “Patient For Life” exome reanalysis program is explored with Ambry Genetics’ Chief Medical Officer, Dr. Elizabeth Chao, and the VP of Medical Affairs and a seasoned Genetic Counselor, Kelly Hagman.
#296 Epigenetics and Beyond: Dr. John Greally's Journey
Exploring genomics while serving communities in The Bronx, the evolving study of epigenetics, and learning through personal insight from a clinical geneticist.
#294 Newborn Screening for Cancer Disposition with Dr. Lisa Diller
Dana-Farber/Boston Children’s Dr. Lisa Diller provides insight on newborn screening for childhood cancer conditions like retinoblastoma and Li-Fraumeni syndrome.
#292 TALEN® Gene Editing Technology with Cellectis
Dr. Julien Valton, explains how TALEN® gene editing technology works, what conditions are currently being worked on and the future of gene editing.
#286 Qatar Genome Program with Dr. Said Ismail
The largest genome sequencing initiative in the Middle East and the first whole-genome sequencing operation in the region to study Qatari and Arab genomes.
#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”.
#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.
#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.
#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.
#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!
#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.
#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.