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 mood disorder and psychotic illness. The project integrates molecular biological studies and establishes the basis for a future 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 further 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.
Read the Full Project Outline and Objectives
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If you require further information please contact:
Sue Hampton-Matthews
Section of Developmental Psychiatry
University of Cambridge
2nd Floor Douglas House
18a Trumpington Road
Cambridge
CB2 8AH
If you prefer please email Sue Hampton-Matthews at smh44@medschl.cam.ac.uk