Caterina Lucano

Nov 5, 2023 | nature.com | Kornelia Ellwanger |Peter Robinson |Holm Graessner |Sergi Beltran |David Lagorce |Caterina Lucano

AbstractRare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% of RD have a genetic origin although 35% of them do not yet have an identified causative gene. A significant proportion of patients suspected to have a genetic RD receive an inconclusive exome/genome sequencing.