SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

ABSTRACT: One of the IRDiRC goals for 2017⁻2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as delay in diagnosis remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created in response to this challenging scenario to cover patients' needs and after seeing the success of the Undiagnosed Diseases Program (UDP) in the USA. SpainUDP offers a multidisciplinary approach to those patients who have long sought a diagnosis without any success. During the first phase of the protocol, undiagnosed cases are sent to SpainUDP by individual patients or families, patient organizations or hospitals. After careful analysis of phenotype, data from sequencing experiments (WES) is processed with a standard pipel

SUBMITTER: Lopez-Martin E 

PROVIDER: S-EPMC6121381 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature