A symphony of genetic changes
Schizophrenia is a serious psychiatric illness that affects one in 100 people. The causes and mechanisms have long been a mystery. There is now exciting progress in identifying major genetic risk factors, with clinically relevant findings that can be translated in improved management for patients.
Dr. Anne Bassett, Canada Research Chair in Schizophrenia Genetics and Genomic Disorders, is an expert in schizophrenia genetics and in adults with genomic disorders.
She has internationally renowned expertise in adults with 22q11.2 Deletion Syndrome (22q11.2DS), an under recognized, though common, genetic condition. The 22q11.2 deletion (piece missing) associated with 22q11.2DS represents the first known molecular genetic risk factor for schizophrenia.
This and other rare structural genetic variants are part of a symphony of genetic changes that contribute to causing schizophrenia. They are key resources for understanding the developmental, and perhaps degenerative, changes involved in the pathogenesis of schizophrenia and other common complex conditions.