Grant: Operating Grant

Schizophrenia is a serious psychiatric illness that affects 1 in 100 people. In schizophrenia, 1 in 100 people have a genetic syndrome called 22q11.2 Deletion Syndrome (22qDS) that is associated with a 22q11.2 deletion (piece missing from a region on one chromosome 22) that can be confirmed with a blood test. We are international leaders in the study of adults with 22qDS. Individuals with 22qDS have a high (about 1 in 4) chance of developing schizophrenia. This makes 22qDS an especially valuable group to better understand genetic factors that lead to schizophrenia. We will perform detailed clinical assessments and laboratory investigations comparing two groups: 100 adults with schizophrenia and 100 adults with no psychotic illness, all of whom have 22q11.2 deletions. We will use advanced genetic techniques to find changes in the genetic sequence and architecture that interact with the 22q11.2 deletion to cause schizophrenia. Results from this study should help us to understand more about the genetic mechanisms that predispose to schizophrenia in the general population. Improved knowledge about these genetic changes will help us understand the brain changes that lead to schizophrenia. Eventually this new knowledge will help us to develop improved treatments for those who suffer with this serious illness.