De-risking PWS drug development through preclinical screening

Lead Research Organisation: CARDIFF UNIVERSITY
Department Name: School of Medicine


Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder in which individuals display behavioural and psychiatric problems. It is caused by loss of expression, either through deletion or abnormal epigenetic regulation, of a number of normally paternally expressed imprinted genes. Working with the Foundation for Prader-Willi Research Pre-clinical Animal Network (FPWR-PCAN), the aim of this project is characterise new PWS mouse models & standardise a pre-clinical screening platform for drug candidates [1]. We will use a number of behavioural paradigms established in our lab to assess activity, sensory-motor gating, learning and memory, and other aspects of cognition in two mouse models for PWS [2-4]. Specifically, an existing Snord116-ko mouse model [5,6] and a newly generated Ipw-ko model. In addition, we will be performing some molecular analyses using the novel Ipw-ko mouse, based on previous observations of interactions of this non-coding RNA with the regulation of a separate cluster of imprinted genes containing the non canoncial Notch-ligand, DIk1 [7]. Parallel characterisation of these two models will allow us to delineate the relative contribution of each gene to the overall PWS phenotype and therefore aid the developmentof targeted therapeutics.


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Studentship Projects

Project Reference Relationship Related To Start End Student Name
MR/R502340/1 30/09/2017 29/09/2021
1976190 Studentship MR/R502340/1 30/09/2017 29/06/2021