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.

Studentship Projects

Project Reference Relationship Related To Start End Student Name
MR/R502340/1 30/09/2017 29/09/2021
1976193 Studentship MR/R502340/1 30/09/2017 30/03/2021
Description Travel award from the Guarantors of Brain
Amount £850 (GBP)
Organisation Guarantors of Brain 
Sector Charity/Non Profit
Country United Kingdom
Start 11/2019 
End 11/2019
Description Brain Domain 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Postgraduate students in my team created a blog where topics of neuroscience are explained in laymen terms. The idea is to spread scientific knowledge in an entertaining and relatable way.
Year(s) Of Engagement Activity 2017,2020
Description Pint of science 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact I was part of the local team for the international science festival Pint of Science. We organized three evenings of different topics within neuroscience. Scientists were invited to speak to the general public about their research in a pub. We had upwards of a hundred attendees over the three nights.
Year(s) Of Engagement Activity 2017,2018