In-depth genetic analysis of monogenic diabetes
Maturity onset diabetes of the young, a form of monogenic diabetes, is a Mendelian disorder referring to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. Genetic testing fails to show causal mutations in more than 50 % of known Mendelian disorders, highlighting an urgent need to establish the role of non-coding mutations in this disease. The EU-funded DecodeDiabetes project aims to develop a strategy for genetic analysis of regulatory variations in Mendelian diseases. The project created epigenomic resources to interpret the regulatory genome in embryonic pancreas and adult pancreatic islets. Importantly, researchers collected a large international patient cohort with a phenotype consistent with monogenic diabetes and with increased likelihood of harbouring non-coding mutations. Used alongside innovative technologies, these resources will uncover causal non-coding mutations.
Fields of science
Call for proposalSee other projects for this call
Funding SchemeERC-ADG - Advanced Grant
See on map
See on map