The Rare and Unknown Disease Project is an interdisciplinary 4-year project, funded by the Chilean Agency for Research and Development (ANID). The project, led by Gabriela Repetto, M.D., a member of the G2MC leadership team, is aimed at evaluating the personal, familial, healthcare and societal implications of reaching a diagnosis (or not) via exome sequencing for persons with unknown rare disorders in Chile.
In addition to Whole Exome Sequencing (WES), surveys are being conducted to patients, caretakers and health care teams, using the EuroQoL tools (EQ-5D), qualitative interviews aimed at understanding the diagnostic and therapeutics pathways, and performing cost-consequence analysis. In addition to novel disease discoveries, the project aims to contribute with a value framework proposal for rare undiagnosed diseases in Chile.
