Genetic architecture of polygenic traits and diseases
Video page · Mar 28, 2025
Lluis Quintana-Murci, Professor at the Collège de France
Genetic causes of monogenic traits and diseases
Medical Genetics, Genetics, Genomics and seminar by Lluis Quintana-Murci, Professor at the Collège de France
Hosted by Collège de France
Friday 09:30–11:00 Paris (GMT+1)
Recording available
Amphithéâtre Marguerite-de-Navarre, Site Marcelin-Berthelot · In person
Abstract
This lecture reviews genetic explanations for single-gene disorders through Mendelian inheritance and examples such as achondroplasia. Whole-genome sequencing helps identify causal variants, while comparisons of rare and common mutations illuminate disease mechanisms. The discussion also considers what transcriptomic and proteomic measurements add to clinical genetic investigation.
Topics
single-gene disordersMendelian inheritanceachondroplasiawhole-genome sequencingcausal variantscommon mutationsdisease mechanismsproteomic measurements
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