PWS - Prader-Willi Syndrom: a model linking gene expression, obesity and mental health (FP6-LIFESCIHEALTH) (2005-12-01 - 2008-11-30) (»add to infobox)

Anthony Tony HOLLAND, Francoise MUSCATELLI, Jean-Pierre FRYNS, Leopold CURFS, Bernhard HORSTHEMKE, Dick F. SWAAB, Ann Christin LINDGREN, Alexander HÜTTENHOFER, Michael FAINZILBER, Olivier COHEN, Pierre CHAMBON

THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF CAMBRIDGE (UKH12 - Cambridgeshire CC) (Great Britain), CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS) (FR101 - Paris) (France), KATHOLIEKE UNIVERSITEIT LEUVEN (BE242 - Arr. Leuven) (Belgium), UNIVERSITEIT MAASTRICHT (NL423 - Zuid-Limburg) (Netherlands), UNIVERSITAET DUISBURG-ESSEN (DEA12 - Duisburg, Kreisfreie Stadt) (Germany), KONINKLIJKE NEDERLANDSE AKADEMIE VAN WETENSCHAPPEN - KNAW (NL326 - Groot-Amsterdam) (Netherlands), KAROLINSKA INSTITUTET (SE010 - Stockholms län) (Sweden), MEDIZINISCHE UNIVERSITAET INNSBRUCK (AT332 - Innsbruck) (Austria), WEIZMANN INSTITUTE OF SCIENCE (NoRegion - NoRegion) (Israel), HC FORUM (FR714 - Isère) (France), CENTRE EUROPEEN DE RECHERCHE EN BIOLOGIE ET MEDECINE (FR421 - Bas-Rhin) (France)

The aim of this project is an integrated multidisciplinary investigation of Prader-Willi Syndrome (PWS), a rare disorder associated with developmental delay, severe obesity and an elevated risk of psychotic illness. The project integrates molecular biological studies and establishes the basis for an EU wide clinical study. Molecular biological and genetic studies will include the investigation of post-mortem hypothalamic tissue from people who had PWS, the development and study of different genetic mouse models of PWS, and strategies to characterise the PWS genotype. By establishing a standardised data base, specifically designed for PWS, it will enable the collection of clinical data across the EU in a manner that will allow, in the future, the investigation of genetic and other influences on the development of people with PWS across all ages, thereby complementing the molecular biological studies that will identify the neurobiological mechanisms and signalling pathways that mediate between genotype and phenotype. The project will contribute to the understanding of early development and increase the comprehension of basic mechanisms responsible for obesity and severe psychotic illness in the general population. Given the high morbidity and mortality rate associated with having PWS, the project will provide the basis for clinical studies that will then establish a benchmark for early diagnosis as well as for best practice in the health and social care of people living with PWS. These findings will be disseminated through scientific and practice-based journals and in collaboration with the EU National PWS Associations who are partners in this study. We aim to develop a model for the multidisciplinary investigation of other rare disorders in the EU.

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