Objective
The UV-sensitive disorders, xeroderma pigmentosum (XP), Cockayne Syndrome (CS) and trichothiodystrophy (TTD) are associated with defects in DNA repair. XP is cancer- prone, whereas CS and TTD are cancer-free multi-system genetic disorders. The genes defective in CS and TTD have dual functions in DNA repair and in transcription. We will
1) establish cell strains from new patients, characterise their DNA repair defects and determine the sites of the mutations in the appropriate genes;
2) determine the effects of the mutations on the activities of the gene products;
3) determine the relationships between defects in repair and transcription, by analysis of TFIIH, the transcription factor affected in patients with TTD and some patients with XP, and by studying the mechanism of transcription- coupled repair, witch is defective in CS;
4) identify the defect in the variant form of XP;
5) study genotype-phenotype relationships in transgenic mouse models
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.
- natural sciences biological sciences genetics DNA
- natural sciences biological sciences genetics mutation
- medical and health sciences clinical medicine oncology
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
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.
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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Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Funding Scheme
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.
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
BN1 9RR BRIGHTON / FALMER
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.