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Protein Structure, Molecular Mechanisms and Human Genetic Disease: Beyond the Loss-of-function Paradigm

Project description

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.

Call for proposal

ERC-2020-COG
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Host institution

THE UNIVERSITY OF EDINBURGH
Address
Old College, South Bridge
EH8 9YL Edinburgh
United Kingdom
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 2 000 000

Beneficiaries (1)

THE UNIVERSITY OF EDINBURGH
United Kingdom
EU contribution
€ 2 000 000
Address
Old College, South Bridge
EH8 9YL Edinburgh
Activity type
Higher or Secondary Education Establishments