Objective
Infantile hyperinsulinism (HI) is a rare devastating heterogeneous genetic disease. Germ line or somatic mutations in one of four genes (resulting in loss / reduction of ATP dependent potassium currents in the pancreatic b-cell membrane) are founding 50 % of individuals. Overall 35% of patients have a somatic mutation within an abnormal focus of pancreas ( foHI ). The genetic basis in other patients is obscure. This proposal will
(a) screen new candidate genes identified through study of clinical phenotype and b-cell biology in vitro;
b) evolve strategies to identify foHI early and facilitate early specialist surgery in supra-regional surgical centres;
(c) critically evaluate / develop new treatments for non-foHI;
(d)establish a multinational patient / genetic database;
(e) establish and cryopreserve HI b-cell lines for future genetic manipulation and transplantation studies.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
- medical and health sciencesclinical medicinesurgery
- natural scienceschemical sciencesinorganic chemistryalkali metals
- medical and health sciencesmedical biotechnologygenetic engineering
- natural sciencesbiological sciencesgeneticsmutation
- medical and health sciencesclinical medicinetransplantation
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Call for proposal
Data not availableFunding Scheme
CON - Coordination of research actionsCoordinator
WC1N 1EH LONDON
United Kingdom