

Ep 106: The Colliding World of Rare and Common Disease Genetics with Caroline Wright, Professor of Genomic Medicine at Exeter University
Aug 31, 2023
Caroline Wright, leading expert in genomic medicine, discusses the challenges in rare disease diagnosis, uses of population cohorts, potential of newborn screening, and the importance of data sharing. Topics include missense variants, in silico protein structure analysis, ascertainment bias, and promising cohort studies for ultra-rare diseases. Caroline also shares her excitement for new genomics technologies and explores the significance of genetic variants.
Chapters
Transcript
Episode notes
1 2 3 4 5 6
Introduction
00:00 • 2min
Understanding Developmental Disorders and Diagnostic Challenges
02:01 • 14min
Opportunities and Challenges in Newborn Screening
16:24 • 2min
Operational Aspects of Genomic Analysis for Rare and Common Diseases
17:58 • 2min
Navigating Academia and Unconventional Paths in Research
20:00 • 3min
Exciting Topics and Technologies in Genomics and the Importance of Rare Disease Diagnosis
22:38 • 4min