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From genes to functional defects in hereditary and malignant diseases

Research project P6/05 (Research action P6)

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Description :

An increasing proportion of human diseases is being recognized as resulting from the effect of inherited as well as 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”, which received a positive evaluation, based, among other criteria, on the existence of fruitful interactions between the groups.

The project is divided into 7 different workpackages.
Two of them deal with malignancies :
WP1. Solid tumors of neurogenic origin
WP2. Hematological malignancies

Four of them with hereditary or complex disorders :
WP3. Cardio/Vascular anomalies
WP4. Glycosylation and (de)glycation
WP5. Genetic bases and pathophysiology of epithelial cell diseases
WP6. Epigenetics of complex inherited traits

WP7. deals with the development of tools, i.e. of Genomic technology platforms for disease gene identification.

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.

Partner 1 (Université catholique de Louvain - ICP, Brussels) : Emile Van Schaftingen, Stefan Constantinescu, Pierre Courtoy, Miikka Vikkula, Eric Van den Neste

Partner 2 (Katholieke Universiteit Leuven-CME, Leuven) : Jean-Jacques Cassiman, Jan Cools, Harry Cuppens, Koen Devriendt, Maria Debiec-Rychter, Guy Froyen, Erik Legius, Peter Marynen, Gert Matthijs, Hilde Van Esch, Peter Vandenberghe, Joris Vermeesch, Iwona Wlodarska.

Partner 3 (Université de Liège) : Michel Georges, Carole Charlier, Wouter Coppieters, Haruko Takeda, Cécile Libioulle, Sarah Hansoul.

Partner 4 (Universiteit Gent) : Frank Speleman, Jo Vandesompele, Nadine Van Roy, Bruce Poppe, Anne De Paepe, Bart Loeys, Paul Coucke, Julie De Backer.

Partner 5 (Université catholique de Louvain, Brussels) : Olivier Devuyst.

The European partners are C. Mecucci (Perugia) and M. Odero (Pamplona).

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