The Genetics Podcast
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.
26:29
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Quick takeaways
- Improving variant interpretation and expanding the genomic footprint are crucial in uncovering ultra-rare conditions and diagnosing monogenic conditions.
- Advancements in protein modeling techniques, like AlphaFold, have the potential to enhance pathogenicity prediction and improve genetic diagnosis.
Deep dives
Main Focus: Diagnosing Rare Diseases
Professor Caroline Wright discusses her work in diagnosing monogenic conditions and developmental disorders through genome sequencing technologies. She highlights the ongoing deciphering developmental disorders (DDD) study and the importance of improving variant interpretation and expanding the genomic footprint to uncover ultra-rare conditions.
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