Date
Thursday 22nd October 2026, 10:00
Location
St Anne's College

Our overriding aim is to understand the experiences of those living without a diagnosis and to consider ways in which people can be effectively supported. Many people with rare conditions do not have a molecular genetic diagnosis. In the UK, around 6,000 children are born each year with a syndrome without a name (SWAN), and current genetic testing often fails to provide them with answers. Research has focused almost exclusively on trying to find a diagnosis for people. While this is clearly important, we also need to recognise that, despite these efforts, many people will live without a diagnosis for several years, and the issues they face while living in limbo deserve attention.

In the first phase of our study, we conducted a large-scale qualitative secondary analysis of archived datasets from a range of recent studies. Using an innovative approach that combines machine learning tools with in-depth qualitative approaches, we identified common themes across the datasets. The second phase of the project will involve new research to address gaps in our understanding of the support needs of people who are living in limbo.

We would like to share the findings from the first phase of the project in this workshop. Together, we hope to identify the most important unanswered questions and co-design the next phase of the research.

What will happen in the workshop?

  • Informal talks from participants, sharing perspectives on the key issues and priorities.
  • Presentation of findings from our qualitative secondary analysis.
  • Discussion to identify priorities and co-design the next phase of the research.

If you would like any further information, please contact us at cpm@well.ox.ac.uk.