People

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

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.

X chromosome inactivation. Gene regulation, chromatin modification, epigenetic silencing.

Ethical and social dimensions of genetic testing, knowledge, commercialization; democratizing the governance of genomics.

Lysosomal storage disease and disorders of sulfate transport.

Characterization of the stem cell state and its control by comparative global gene expression and proteomics analyses.

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.

Neurological mutant mice are used as entrees into studying the genetics, cell biology and development of genes that are critical to nervous system development.