Cardio Genetic Counselor, YouTuber, and Patient Advocate Izzy Kornblau shares her expertise in Ehlers-Danlos Syndromes, she has personally been diagnosed with hypermobile EDS.
All in Scientist
#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.
#216 African American Ancestry with Nicka Smith
Pro genealogist Nicka Smith discusses direct to consumer DNA testing and its role in retracing African American Ancestry.
#208 The 100,000 Genomes Project with Dr. Julian Barwell
Dr. Julian Barwell shares insight on the 100,000 Genomes Project and how digital pedigrees are essential to the project and healthcare.
#207 N-Lorem: Dr. Sessions Cole on the Diagnostic Odyssey
The robust processes to evaluate applications to n-Lorem’s nano-rare patient treatments.
#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean
Dr. Lora Bean, Senior Director of Quality Assurance at PerkinElmer Genomics, discusses the role that phenotypic data plays in analyzing genetic data.
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
World-renowned geneticist, Madhuri Hegde, and Genetic counselor, Ann Martin discuss the genetics of Duchenne Muscular Dystrophy (DMD) and potential treatments.
#198 CRISPR Ethics with Sam Sternberg
Sam Sternberg discusses CRISPR ethics from the book he co-authored with Nobel Prize Winner Jennifer Doudna, “A Crack in Creation”.
#197 CRISPR Quality Control with Kiana Aran
Keck Graduate Institute’s Dr. Kiana Aran discusses CRISPR research and developing quality control standards.
#195 Genetic Testing Industry with Tod Klingler
Tod Klingler shares insights from his 25-year career in the genetic testing industry.
#189 Building Inclusive Pedigrees with PhenoTips
Phenotips CEO, Dr. Orion Buske, and genetics workflow consultant, Erica Peacock, discuss building inclusive pedigrees in honor of Pride month!
#188 Propionic and Methylmalonic Acidemia with HemoShear Therapeutics
Patient advocate, Bryan Kelly, & HemoShear CMO, Dr. Pat Horn, discuss life with Proprionic and Methylmalonic Acidemia and an investigational therapy.
#187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh
The fascinating genetics of FSHD is discussed including diagnosis through whole genome optical mapping.
#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy Chung
First episode of the N-Lorem Foundations’ “Patient Empowerment Program” features an actor turned patient advocate and a pediatric geneticist.