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.

We study the pharmacogenomics of drug response – particularly serious adverse drug reactions and the therapeutic failure of drugs. I have a particular interest in pediatric medicine and the variability in drug response.

Lysosomal storage disease and disorders of sulfate transport.

I am a PhD geneticist and board certified genetic counsellor. My research interests include: rare disease, genomics, congenital malformations (in particular, skeletal and limb anomalies), genetic counselling and health services implementation science. I am committed to advancing the academic field of genetic counselling and improving access to genetic counselling service provision.

 

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