IRDiRC is pleased to announce the release of a new publication in the Orphanet Journal of Rare Diseases, “Unveiling the depth of the knowledge gap in the Universe of Rare Diseases: the PLUTO mission”, which presents findings from an IRDiRC’s PLUTO initiative on the mapping disparities in scientific knowledge and drug development across non-oncological rare diseases.
The paper notes that:
- Half of the diseases analysed had scientific publications but no evidence of clinical development.
- More than 90% of conditions with the lowest prevalence had not received an EU orphan drug designation.
- Among the diseases studied, the median interval between the first scientific publication and the first orphan drug designation was around 45 years.
These findings highlight the need for coordinated research efforts and targeted incentives to support the diseases receiving the least attention, and help translate knowledge into treatments.
Read the full publication, available open access: https://link.springer.com/article/10.1186/s13023-026-04574-1
Learn more about PLUTO project: https://irdirc.org/pluto-project-disregarded-rare-diseases-2/