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. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- medical and health sciences clinical medicine surgery
- natural sciences chemical sciences inorganic chemistry alkali metals
- medical and health sciences medical biotechnology genetic engineering
- natural sciences biological sciences genetics mutation
- medical and health sciences clinical medicine transplantation
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Programme(s)
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Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
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Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
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Funding Scheme
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Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
WC1N 1EH LONDON
United Kingdom
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.