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Shape research, change lives: setting priorities in genetic syndrome research

Start date

May 2023

End date

July 2024


Genetic syndromes and other neurodevelopmental conditions affect millions of people’s lives in the UK, yet research priorities are very rarely shaped by the individuals themselves. We will analyse the relationship between the portfolio of research on genetic syndromes and the research priorities of individuals with genetic syndromes and their communities. To do this, we will draw on online databases and conduct a research priority-setting exercise by working directly alongside individuals with genetic syndromes. We will focus on three genetic syndromes, Down syndrome (DS), fragile X syndrome (FXS) and Williams syndrome (WS). We have chosen these groups due to the wide range of ways in which these conditions affect outcomes; their early and definitive diagnosis; their overlapping cognitive strengths and weaknesses; and the substantial research expertise and community collaborations within our team. Taking a participatory approach, advisory groups from the genetic syndrome community, and a steering group will guide the research process.  We will produce a report of our findings which will be disseminated to individuals with genetic syndromes and their communities, researchers, research funders and policy makers.  

Our findings will provide a new opportunity to reshape research priorities, so that more research can speak to the realities of people’s everyday lives. 



Research groups and centres

Our research is supported by research groups and centres of excellence.



Our report will be made available here in summer 2024

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