The benefits of sharing
The treatment of rare diseases remains a vast and largely unresolved issue. More than 7 000 such illnesses are known, which means that considered collectively, they are actually not that uncommon. According to estimates, about 30 million people are affected in the EU alone. Therefore the EU has invested over €800 million into the research in rare diseases over the last 10-year period alone. Next to projects like MYOCURE, which focus their efforts on specific diseases, overarching projects aim to create new links and share knowledge to enhance scientific progress.
One of these projects is RD-CONNECT. The project is linking up databases, biobanks, registries and other valuable resources. The platform this creates is global in scope, and already holds genomic and clinical information for thousands of patients. It allows scientists to match up individuals likely to be affected by the same illness and compare their genomes to pinpoint a shared variation that may have caused the disease. The aim is to support the provision of accurate and timely diagnosis and to generate new clues for the development of novel treatments.