Shape Research, Change Lives: Setting priorities in genetic syndrome research

Two-page briefings and easy read resources can be found at: https://www.surrey.ac.uk/research-projects/shape-research-change-lives-setting-priorities-genetic-syndrome-research#outputs Down syndrome (DS), Fragile X syndrome (FXS), Williams syndrome (WS) affect millions of people’s lives in the UK. Recent advances in policy, such as the Down Syndrome Act 2022, the Rare Diseases Framework 2021, and the Disability Action Plan 2024, provide hope for improved opportunities for people with these genetic syndromes and others who experience similar issues. The UK is a world leader in research. The high-quality studies on DS, FXS and WS are no exception; we have a better understanding of DS, FXS, WS than ever before. Research, when translated into practice, can be transformative to the daily lives of people with these genetic syndromes and others who experience similar issues, as well as those who support them. Yet, our communities are calling for funders and researchers to prioritise a more balanced portfolio of research, and that researchers share their advances in a way that enables research to have optimal impact. The aim of this report, funded by the Baily Thomas Charitable Fund and University of Surrey Higher Education and Innovation Fund (HEIF) allocation, is to document the current portfolio of research on DS, FXS, and WS, and to compare this with the priorities for research of individuals with DS, FXS, and WS (from children to adults), their families, practitioners, and researchers. We report key findings that are relevant to the broader learning disability communities, as well as findings specific to DS, FXS, and WS.