The 22q11.2 Society

Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

Gabriela Repetto

Gabriela Repetto
Gabriela Repetto
Gabriela Repetto, MD is professor of Genetics at Facultad de Medicina, Clinica Alemana Universidad del Desarrollo (CAS-UDD), where she directs the Rare and Undiagnosed Diseases Program. She received her MD degree from P Universidad Católica de Chile, completed a Pediatrics residency at University of Wisconsin-Madison and a clinical genetics fellowship at Children's Hospital in Boston, where she first met and evaluated patients with 22q11 microdeletion syndrome, as the use of FISH testing was increasingly used in clinical settings.

Upon her return to Santiago in 1998, she received her first intramural clinical research grant from P Universidad Católica de Chile, that allowed her to establish a 22q clinic and participate in the implementation of FISH testing in this institution.

In 2003, she moved to the newly established Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, and its clinical affiliate, Hospital Padre Hurtado, a public hospital that serves one of the poorest areas in Santiago. Since then, she works with clinicians across the country in many areas, such as pediatrics, cardiology, otolaryngology, speech pathology, neurology, psychology and psychiatry, to provide adequate care for persons with 22q11 deletion syndrome and their families. She also collaborates closely with the local foundation,, where she learns from patients' and families' needs and challenges, and also from their successes and generous support for each other.

Since 2006, she has received uninterrupted grant funding from CONICYT (National Commission of Ciencia y Tecnologia), currently ANID (National Agency for Research and Development) for research into modifier factors of the phenotypic variability of the cardiac manifestations in 22q deletionss, and of later onset features such as psychosis and movement disorders. It is through this research work that she has met the amazing 22q community worldwide and has been invited to collaborate in international projects. She is active in establishing networks and best care practices for patients in the Latin American region.

Gabriela created the Center for Genetics and Genomics at CAS-UDD, and directed it from 2003-2018. She now leads the interdisciplinary Rare and Undiagnosed Diseases Program, aimed at shortening the diagnostic odyssey for families with unknown disorders and implementing genomic testing in Chile.


The 22q11.2 Society Registered Charity No. 1165896