Anne Bassett

Anne Bassett’s career has been devoted to understanding the genetics of complex conditions. A focus on identifying clinically relevant rare variants, that collectively are not rare, has informed causation and disease mechanisms of conditions including schizophrenia, congenital cardiac disease, and Parkinson’s disease. Dr. Bassett is an international leader in this area, with particular expertise in the adult expression of 22q11.2 microdeletions and other recurrent copy number variants (CNVs), and have >200 publications in this area alone.

This work capitalizes on the fact that individuals with a clinically relevant genetic change, such as the 22q11.2 microdeletion that affects nearly 1 in every 2000 live births, form a homogeneous group that demonstrably enhances power for clinical and molecular studies. This multisystem genetic condition represents a superb model for studying common complex diseases in young adults – a “missing middle” between paediatric complex care patients and geriatric patients. Following complex care patients with molecularly confirmed 22q11.2 microdeletions longitudinally, and comparing associated conditions within this cohort, and to population-based controls, has enabled multiple novel discoveries of high value to public health.

She was appointed as a Member of the Order of Canada. In addition to receiving the 2020 international Lieber Prize for her work in schizophrenia research, she established the first clinic devoted to adults with 22q11.2DS and was awarded the inaugural Dalglish Chair in 22q11.2 Deletion Syndrome (22q11.2DS). She is a leader in international groups related to 22q11.2DS, plays active roles in international consortia, and has published paediatric and adult clinical practice guidelines for this condition. Her public service work includes acting as Treasurer of the 22q11.2 Society, and Medical Director of the International 22q11.2 Foundation.