Genetic Epidemiology and Human Gene Mapping

1) exploring the genetic causes and understanding the clinical presentation of genetic conditions (Long QT Syndrome and Primary Biliary Cirrhosis, PBC) p revalent in BC First Nations; 2) exploring the determinants of early Inuit health and infant mortality; 3) understanding the effects of the environment and other determinants on birth outcomes in BC, Yukon, Alberta, and Nunavut.

Genetics of human cancer susceptibility, particularly lymphoma, and genetics of healthy aging and longevity. Family and population-based genetics studies. We use techniques such as genotyping and exome and whole genome sequencing.

Human pedigree and population genetics, and mouse modeling of neurodegenerative disease – designed to inform therapeutic development.

Clinical applications of genomic technology; birth defects epidemiology and clinical teratology; clinical studies of neurofibromatosis.

Changes in specific genes that result in specific diseases, concentrating on Huntington disease and premature coronary artery disease.

Discovery of monogenic causes of human developmental or metabolic disorders; natural history of monogenic disorders; optimal management of mitochondrial disorders.