We focus on persons with rare diseases that have not yet received a diagnosis. We aim to understand whether using genomic tools makes it possible to reach a diagnosis, and what its impact is in three dimensions: personal, social, and the health system. During four years (2021-2024), we expect to invite 300 people with undiagnosed rare diseases and their families to participate in various objectives of the study.
To identify genes and variants that cause rare undiagnosed diseases, through exome sequencing and bioinformatic analyses.
To identify health care changes in persons who have recently received a diagnosis, including personalized or adjusted decisions regarding health care for their individual needs, and identify and understand the impact on the quality of life of the patients and their families, compared and contrasted to those who continue without obtaining a rare disease diagnosis.
To understand the diagnostic trajectory of people with rare diseases and their health teams; we aim to follow both those who obtain a diagnosis and those who remain undiagnosed.
To evaluate, in terms of costs and consequences for the public health system, the use of new generation sequencing technologies for the diagnosis of rare diseases, compared with other available clinical tests.
To generate a reference framework for rare diseases in Chile, considering the qualitative and quantitative results of the study, as well as the perspective of stakeholders relevant to the subject.
ANID Projects Fondecyt 1211411, 1221802, 11220642, Fondequip EQM 150093, International Networks 180047.
Child Health Foundation, Birmingham, AL. EEUU.
In-kind contributions from Schools of Medicine, Clinica Alemana Universidad del Desarrollo and P Universidad Catolica de Chile.