The Rare Disease Project was recently awarded funding by the National Agency for Research and Development (ANID-Chile) for high throughput genotyping equipment, the first in Chile. This interdisciplinary 4-year project is led by Gabriela Repetto, M.D., a member of the G2MC leadership team, and 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.

The strategy for this successful funding application was to join forces with groups in agriculture (Claudio Meneses, Ph.D. from P Universidad Catolica de Chile), veterinary (Jose Manuel Yañez, Ph.D. from Universidad de Chile) and human/medical genomics (Gabriela Repetto, M.D. from Universidad del Desarrollo), to address one of the main limitations in costs for genomic tools for LMICs, which is the relatively low sample volumes and thus higher prices. 

“With this government-academia collaboration, and partnerships with industry, the team expects to ‘bring home’ testing that is usually outsourced abroad, so that researchers, clinicians, and students can gain more hands-on exposure and increase the use of genomics in Chile,” said Repetto. “I see this as a great opportunity to collaborate with regional IHCC cohorts in discovery, and G2MC implementators.”