Wellcome Trust Grant 210585/B/18/Z Impact of missense mutations in recessive Mendelian disease: insight from ciliopathies

Our group, together with four other groups in Germany and the UK, was awarded this grant in June 2018.

The five year project will aim to uncover how genetic variants lead to genetic diseases, specifically those ciliopathies that have skeletal phenotypes. We will combine information about patient genetic variants, with affinity proteomics and a variety of phenotypic screens, to derive models of how particular variants can drive the diseases and/or lead to differences in severity or outcome.

If you are a prospective PhD student or Post-doc and this sounds interesting to you in the context of what our group does, then contact us.