The EMMAC project: impact of missense mutations in genetic disease

Featuring Dr Dagan Jenkins (UCL/Great Ormond Str. Inst. Child Health) and hosted by Professor Tom Carter/Dr Soo-Hyun Kim.

Dr Dagan Jenkins group is interested in the genetic basis for rare bone disorders and skeletal ciliopathies. His group has identified a number of key mutations associated with several rare genetic conditions and uses a chemical genetic approach to understand 1) why some tissues are more susceptible to disease than others, 2) what are the primary cellular defects underlying different genetic skeletal disorders, and 3) how to repurpose drugs to treat these conditions.

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