Solving the unsolved: an interdiciplinary evaluation of personal, social and health system effects of the use of genomic strategies for rare undiagnosisi disorder

Gabriela Repetto Lisboa; CABIESES VALDES, BALTICA; Espinoza, Manuel; Matute, Isabel; Poli Harlowe, Maria Cecilia; rodríguez Cecilia; Obach, Alexandra

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Fecha de publicación: 2021
Objetivos: To analyze the effects of systematic assessment and WES diagnosis in patients with Rare Undiagnosed Diseases (RUDs) on healthcare delivery at the clinical setting, patients and families´ experiences, and healthcare efficiency, as well as to develop a novel value framework for rare disease patients
Instrumento: FONDECYT
Año de Inicio/Término: 2021-2024
Financiamiento/Sponsor: CONICYT
Rol del Usuario: COINVESTIGADOR(A)