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An increasing proportion of human diseases is being recognized as resulting from the effect of inherited or somatically acquired gene mutations and/or epimutations. Identifying the corresponding genes and mutations, as well the pathophysiological mechanisms underlying these disorders would be an important step in the path towards improved prevention, diagnosis and treatment of diseases. The purpose of this network is to make ground-breaking contributions in: (i) identifying the genes undergoing causal (epi-)mutations or copy-number variations in a number of important diseases including malignancies, cardiovascular, renal, metabolic and chronic pulmonary disorders, (ii) understanding the normal physiological modus operandi of these genes and their products, whether proteins or non-coding RNAs, (iii) understanding how the (epi-)mutations perturb these normal functions and ultimately cause disease. Achieving such an ambitious goal requires the complementary expertise of investigators involved in gene hunting, complex trait analysis, epigenetics, and enzymological and biochemical studies, morphologists, and specialists of organ (patho)physiology. It also requires the availability of appropriate technological platforms and sharing of expertise in the use of sophisticated methodologies including SNP genotyping arrays, ChIp-on-Chip arrays, CGH arrays, transcriptome profiling arrays, gene targeting, transgenesis, mouse biochemical profiling, bioinformatics, as well as confocal, multiphoton and electronic microscopy. The studies will also comprise the development of methods to identify genes underlying complex traits as well as investigations on the contribution of polymorphic miRNA-target interactions to phenotypic variation. The proposed network effectively provides a proven platform for the exchange of knowledge and technology in these areas. It represents a prolongation, with remodelling, of the Phase V network entitled "Molecular Pathogenesis of Genetic Diseases". The project is divided into 7 different workpackages. Two of them deal with malignancies :
Five of them with hereditary or complex disorders :
As with the previous phase, it is expected that this network will lead to an important level of scientific exchange between the various teams and therefore provide synergistic interactions that further raise the level of the output.
Last update: April 30 , 2010 | Website design: L. Niculescu | Contact: D. Lebbe | |
