Report launch: Shape Research, Change Lives: setting priorities in genetic syndrome research

Shape Research, Change Lives is a collaboration between University of Surrey, UCL and Oxford University and is funded by the Bailey Thomas Charitable Fund.

To download our report:

We identified how much UK research and research funding has been targeted on Down syndrome (DS), Fragile X syndrome (FXS), and Williams syndrome (WS) in the last ten years and, critically, which areas it has focused on. We also asked the UK DS, FXS, and WS communities’ views and priorities for research. We conducted group-based discussions, interviews and surveys to gather their perspectives on current research. Throughout we worked with an expert steering group and advisory groups with lived experience.

Key findings:
We reviewed 87 funded projects and 627 journal articles on DS, FXS or WS. There was £26 million of funding for research on DS, FXS and/or WS between 2013 and 2022. This represents just <1% of funder portfolios and only ~£35 per person with genetic syndrome per year.
Most research was on basic science (brain, body and cognition), and the least research was on lifespan issues, societal issues and research infrastructure. We asked the DS, FXS and WS communities to comment. 70% were dissatisfied with the current research portfolio; they weighted research which will directly affect their everyday lives as just as necessary as the focus on basic science.

The DS, FXS and WS communities’ priorities for research were:

  1. Interventions and treatments
  2. Health
  3. Mental Health
  4. Services for People
  5. Lifespan issues and transitions

We recommend that: research is informed by people with lived experience, in areas prioritised by community members; and that research findings are easy to access so that people can use research to assist real life decisions.