Clinical Genetics, Genetic Counselling, and Ethics & Policy

The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.

Lysosomal storage disease and disorders of sulfate transport.

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.

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

Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.

1) Scope and impact of germline findings identified in next generation sequencing and the use of these technologies in oncology; 2) molecular diagnosis and characterization of hereditary cancer syndromes