The Solve-Rare Diseases (Solve RD) consortium brings together more than 300 clinicians, researchers and geneticists from 12 European countries and Canada.
Their systematic re-analysis of data from 9,645 people, including 6,449 with an unidentified rare disease and 3,194 unaffected relatives (i.e. 523 genomes and 9,351 exomes) has enabled :
- a diagnosis for 506 families (out of 6,004);
- the identification of 522 pathological variants, 67 of which were recently published, 187 of which were recently reclassified as pathological, 210 of which were reclassified by consensus of Solve RD experts and 88 of which were reclassified by tailor-made bioinformatics studies;
- a review of the files by an ad hoc committee of experts resulted in a diagnosis for a further 249 families.
All these data are available to the rare disease community in search of a phenotype, variant or gene involved in rare neurological diseases, malformative syndromes, neurodevelopmental disorders, rare neuromuscular diseases and digestive cancers suspected of being hereditary.
