18 Dec 2023

Diagnostic research needs recommendations

The Rare Diseases (RD) Moonshot was set up to boost public private collaborations in the areas where there are with no treatment options and there is no R&D going on.   

The RD Moonshot partners identified three areas of action where public private collaborations can add most value 

  • Optimize the translational research ecosystem to accelerate translation,  
  • Modernize clinical trials (design, conduct, regulatory sciences) to make them more suitable for very small populations,  
  • Support infrastructure to shorten the path to diagnosis and treatment 

Diagnosing accurately and timely the undiagnosed, misdiagnosed, and unknown people affected by a rare disease remains a top public health priority. Although approximately 3 out of 4 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.

The Diagnostic research needs recommendations paper aims to inform funders, researchers, patients, industry, and other stakeholders on where public-private partnerships (PPPs) would bring most value in optimising diagnostic research in rare diseases and points to consider when setting up such collaborations.