Rare genetic diseases are individually uncommon but collectively affect an estimated 2.8 million people in the UK. Although rare genetic diseases are dissimilar to one another, there are common challenges in their diagnosis and treatment.
The UK Rare Diseases Framework, published by the Department of Health and Social Care, outlines how the lives of people with rare diseases can be improved. It is due to be updated in 2026.
This project will outline the latest developments in the diagnosis of rare genetic diseases, including genome sequencing. It will consider new technologies to treat rare genetic diseases, including cell and gene therapies, and the coordination of and access to these treatments.
We welcome information on issues relevant to the project. This project will not focus on issues relating to orphan drugs as these are covered in a Rapid Response.