Lochmüller, Hanns; Badowska, Dorota M.; Thompson, Rachel; Knoers, Nine V.; Aartsma-Rus, Annemieke; Gut, Ivo Glynne; Wood, Libby; Harmuth, Tina; Durudas, Andre; Graessner, Holm; Schaefer, Franz; Riess, Olaf; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium
(Nature Research, 2018)
Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship ...