Rare Diseases

The Child & Family Research Institute (CFRI) is committed to world-class research spanning a wide range of children’s and women’s health concerns. It is the largest research institute of its kind in Western Canada.

Incorporated in 1995, the institute features facilities in the heart of Vancouver that afford researchers close access to leading-edge health care organizations serving children and women from around the province. CFRI works in close partnership with BC Children’s Hospital and Sunny Hill Health Centre for Children, BC Women’s Hospital & Health Centre, agencies of the Provincial Health Services Authority; BC Children’s Hospital Foundation; and the University of British Columbia.

CFRI’s success over the past several years has spurred exceptional growth and more is anticipated. To accommodate the boom, a $58.1-million complex with sophisticated equipment has been added to the existing site, effectively doubling the institute’s size. The new facilities, opened in 2008, are designed to cultivate increased collaboration among basic, clinical and population health researchers.

Genetics & Health Research

Genetics researchers are studying conditions such as psychiatric disorders, intellectual and behavioural disabilities, cancers, birth defects and single gene disorders. A variety of methods including animal models of human disease, new genomic technologies and innovative bioinformatics and statistical methods are employed in this work. Clinical research is a strong component of our focus, combining both clinical investigation and genomic capability in many local, national and international collaborative genetic research studies. Therapeutic interventions are also being studied through new enzyme and gene therapies of inherited disease. A particular emphasis is understanding rare conditions, for which modern genetic and genomic studies may produce breakthroughs in fundamental knowledge.

The goal of the Genetics & Health research cluster is to use the powerful tools of human genetics and genomics to improve human health and quality of life.

Through a variety of means we promote translational research and enhance collaborations among clinical genetic researchers and scientists with expertise in molecular genetics, biochemical genetics, molecular cytogenetics, genomics and other complementary areas. These enhanced interactions provide many opportunities to train graduate students and postdoctoral fellows as well as clinical fellows, residents and genetic counselling students in research that fosters the application of recent advances in genetics and genomics to improving patient care.