Innovative diagnostic and therapeutic approaches
to combat rare diseases

what we promote

A large number of different rare diseases impair the quality of life of many of those affected. Little is usually known about the individual diseases. The funding program enables researchers to better understand, diagnose and treat rare diseases.

The aim of the call is to provide new impetus to research on rare diseases. Interdisciplinary extensions of the research design are strongly welcome. Research projects on rare diseases are also encouraged to place a particular focus on childhood manifestations. In principle, projects dedicated to previously undiagnosed diseases that could be rare diseases according to the definition, are also eligible for funding.

projects can focus on the following areas:

• High-throughput sequencing and genotyping of existing and possibly still to be expanded cohorts and other longitudinal health data, including the identification of (predictive) biomarkers (candidates)
• Understanding new challenges in law and ethics regarding medical and research data in the context of rare diseases
• Strengthening interdisciplinary perspectives using AI, machine learning and innovative imaging
• xRNA-based therapeutic approaches, e.g., in the context of antisense oligonucleotide therapies
• Innovative approaches to the acquisition and processing of biomedical data, e.g., through AI/ML, neural networks
• Development and testing of innovative diagnostic approaches and further development of procedures that were previously very complex due to exclusion diagnostics
• Proof of concept projects for the development of gene therapeutics
• Proof of concept projects for the use of (multi-)omics approaches in the research of rare diseases