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.
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.
iTARGET-Autism research is subgrouping “The Autisms” via whole phenome, genome, metabolome, microbiome and proteome discoveries in a precision medicine focus on autism cause, not only its symptoms.
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