Clinical Genetics, Genetic Counselling, Ethics, and 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.

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

Lysosomal storage disease and disorders of sulfate transport.

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

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