Dana-Farber/Boston Children’s Dr. Lisa Diller provides insight on newborn screening for childhood cancer conditions like retinoblastoma and Li-Fraumeni syndrome.
All in Scientist
#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.
#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.
#248 Ornithine Transcarbamylase (OTC) Deficiency
Researchers, Dr. Aimée Dudley and Dr. Andrea Gropman, and patient advocate, Tresa Warner, discuss the most common urea cycle disorder.
#231 ChatGPT and AI In Genetics with Daniel Uribe
Genobank.io’s founder explores how AI will transform healthcare and genomics with chatbots and data privacy.
#230 Cancer Pharmacogenetics with Dr. Jamie Fettig
Dr. Jamie Fettig, Founder/CEO of TrueGene Diagnostics, shares how his team is eliminating variants of unknown significance and pharmacogenetics in oncology.
#229 Pharmacogenomics with Avni Santani
Dr. Avni Santani, CMO of Veritas (LetsGetChecked), provides an overview of pharmacogenomics.
#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde
Geneticists Hong Li and Madhuri Hegde explore the utilization of rapid whole genome sequencing in the NICU setting.