Major European grant for research into rare diseases

Our University has joined an international programme of research to improve the diagnosis of rare diseases.

A large consortium led by the University of Tübingen, the Radboud university medical center Nijmegen, and co-led by Professor Anthony Brookes (pictured) from our Department of Genetics & Genome Biology, with 19 other partner organisations, has acquired a €15 million grant for the 'SOLVE-RD' research program.

The consortium will use the funding to improve the diagnosis of rare diseases. The researchers will work directly with four European reference networks (or ERNs): European networks of care providers set up to share and enhance the knowledge and resources used for treating rare diseases.

Collectively rare diseases are common. While for a given rare disease, the number of people will be extremely low, the very large number of such rare diseases means that collectively, their number in Europe runs into hundreds of thousands. In recent years, it has become clear that the ‘eye’ of a doctor alone often will not suffice to diagnose a rare disease. So we need better genetic tests to diagnose rare diseases, and better informatics systems for finding, sharing and analyzing data, in ethically appropriate and secure ways.

This is where SOLVE-RD, a large-scale research program operating under the European Commission’s Horizon 2020, comes in. The academic partners taking part in SOLVE-RD have designed an infrastructure enabling the coordination and analysis of all data generated across Europe. Combining the existing exome and genome patient data of all collaborators of SOLVE-RD greatly increases the chances of finding a second or a third patient with the same rare disease. The commitment for sharing data on rare diseases on this scale is unique.

• Press release
• This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257.