Connecting Rare Disease Data

A continued bottleneck for rare disease research is that efforts of individual researchers, genetic information, biomaterial availability, detailed clinical information and research/trial datasets are hardly ever systematically connected.

Different types of data used in rare disease research, such as genomic data, health records (phenotypic data) and biosamples (e.g. blood or DNA), are currently fragmented and “siloed” in different databases. The low number of patients with a particular disease and their scattering around the world makes it hard to recruit them to scientific studies and clinical trials. Sharing those data between databases could speed up research and development of better diagnosis and new therapies. However, it is challenging because of the differences in the data type, structure and format (lack of interoperability) and the need to ensure adequate data protection.

To tackle these challenges, the RD-Connect Community is promoting the use of the developed by RD-Connect innovations that will aid rare disease research: