Rare Disease Moonshot: Diagnostic Research Needs Recommendations
The Rare Diseases (RD) Moonshot, of which EURORDIS-Rare Diseases Europe is a partner, was set up to boost public-private collaborations in areas where there are currently no treatment options and there is no research and development being undertaken.
The RD Moonshot Diagnostic Research Needs Recommendations, which have been co-drafted by Roseline Favresse, Research Policy and Initiatives Director at EURORDIS, result from project partners having identified three areas of action where public-private collaborations can add the most value:
- Optimising the translational research ecosystem to accelerate translation.
- Modernising clinical trials (design, conduct, regulatory sciences) to make them more suitable for very small populations.
- Supporting infrastructure to shorten the path to diagnosis and treatment.
Although approximately three out of four rare diseases have a genetic basis, the low prevalence of individual diseases, their varying manifestation due to genetic interactions or interplay with the environment, and the lack of expertise makes diagnosis difficult. Therefore, the RD Moonshoot recommendations aim to inform funders, researchers, patients, industry, and other stakeholders on where public-private partnerships would bring most value in optimising diagnostic research in rare diseases and points to consider when setting up such collaborations.