The presentation of the new funding in the fight against rare diseases was celebrated in the Camp Nou, the F.C. Barcelona’s stadium, in an event hosted by the Centre nacional d'anàlisi genòmica (CNAG). The new key players in the fight against rare diseases are EURenOmics (www.eurenomics.eu), focused on rare kidney disorders, Neuromics (www.rd-neuromics.eu), which addresses rare neurodegenerative and neuromuscular disorders, and RD-Connect (www.rd-connect.eu), that will develop a global infrastructure for sharing the research outputs of these and other rare disease projects.
The event counted with the participation of EURORDIS and IRDiRC, meaning that this initiative is the largest coordinated effort ever made against rare diseases. The genetic and epigenetic studies, using next generation techniques such as whole-exome sequencing (WES), will hopefully lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.