Discovering pathogenic mutations that cause diseases by not loss-of-function mechanism
The ability to identify damaging genetic variants is central to the diagnosis, treatment and prevention of human diseases. The EU-funded PROT-STRUCT-DISEASE project aims to identify pathogenic variants using a combination of computational and experimental approaches. The project's approach will be focused on alternative molecular mechanisms by which mutations can cause disease, versus the loss-of-function mechanism. Structural bioinformatics will uncover the mechanisms underlying pathogenic mutations and their relation to protein structure and phenotype. Deep mutational scanning will measure fitness and elucidate mechanisms linked to all possible single amino-acid substitutions. This will facilitate the direct identification of novel pathogenic variants and their association with human genetic disorders.
Fields of science
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