Baylor Genetics’ Chief Medical Officer Dr. Christine Eng explains how RNA sequencing complements DNA testing to unlock diagnoses for rare disease patients.
All tagged rare disease diagnosis
#383 Inside the Brazilian Rare Genomes Project
How whole genome sequencing is transforming rare disease diagnosis in Brazil featuring MGI’s Victor Camillo and Neogenomica’s Dr. João Bosco Oliveira.
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
In the pilot episode of Gene Pool Media’s newest podcast Rare Rebels, parent Mark Dant shares how grassroots advocacy and a scientist’s persistence reshaped rare disease drug development.
#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
An in-person conversation at the 2025 Connecticut Rare Disease Forum with The National Organization for Rare Disorder’s President/CEO Pam Gavin sharing how patient advocacy organizations are vital to research and development.
#330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome
What parents Caleb and Abbi Walh wish every family knew about navigating a rare diagnosis.
#329 Preventive Genomic Medicine: Saving Lives and Healthcare Costs with MyOme
Shifting healthcare from reactive to proactive, Dr. Matthew Rabinowitz breaks down how preventive genomic medicine can save $200 billion annually in healthcare costs.
#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.
#274 Wolfram Syndrome with Stephanie Snow Gebel
Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
#223 PhenoTips: Rare Disease Diagnosis Workflow
Learn how to build integrated workflows for rare disease diagnosis from PhenoTips’ Dr. Orion Buske and Charles Keenan.