Andre samfinansierte utlysning i partnerskapet for sjeldne sykdommer (ERDERA)

This call finances projects aimed at diagnosing and determining the cause of rare genetic and non-genetic diseases that currently have unknown causes. The call is part of the European Rare Diseases Research Alliance (ERDERA) partnership under Horizon Europe. Multinational research teams can apply for funding to address patient needs in rare diseases and establish effective, multinational and multidisciplinary research collaborations. The expected impact is that results can eventually be translated and used for the benefit of patients. The call addresses the major challenge of diagnosing rare diseases, where approximately 50% of people suspected of having a rare genetic disease remain undiagnosed or misdiagnosed even after standard genetic testing. Rare, non-genetic diseases represent an area with knowledge gaps. On average, it takes about five years to establish a correct diagnosis for people living with a rare disease. Proposed focus areas include functional validation to classify variants of uncertain significance, use of multi-omics or integrated methods, development of new methods not yet validated in clinical practice, systems biology and disease mechanism modeling, integration of clinical and environmental data, development of knowledge graphs, and use of advanced AI and modeling tools. Patient organization involvement from early stages is highly desirable.