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The 22q11.2 Society


International Brain Behaviour Consortium Update

The International 22q11.2DS Brain and Behavior Consortium is a large-scale effort to study the genetics of schizophrenia and other psychiatric disorders associated with chromosome 22q11.2 deletions. With 12 million dollars in support over four years from The National Institute of Mental Health of the National Institutes of Health in the United States of America, this multi-center initiative is examining phenotypes across the life span while utilizing whole genome sequencing in search of phenotype-genotype correlations with the ultimate goals of improving detection, treatment and long term outcomes.

Professor Raquel Gur, overall Co-Director of the Consortium stated, 'The funding from the NIH will provide us with the opportunity to advance the
understanding of this under-recognized neurogenetic condition. The knowledge generated can provide a window to the brain that will benefit millions throughout the world.'

Beyond the potential for yielding a better understanding of a severe manifestation of 22q11.2 deletion syndrome, the results will help identify pathways leading to schizophrenia in the general population in a way that will inform novel treatments. There is a substantial risk for developing psychotic illness in approximately 25 to 30 percent of adolescents and young adults with 22q11.2 deletion syndrome. The illness presentation and course are similar to those of schizophrenia, which occurs in the general population at a much lower rate (about 1 percent). The collaborating Consortium sites have extensive experience in applying integrative genomic and brain-behavior strategies to study individuals with 22q11.2 deletion syndrome and schizophrenia across the
lifespan, and together will have provided data on 1,000 genetically and phenotypically characterized individuals with the syndrome: the largest such
available sample to date. The genomic efforts will include whole-genome sequencing in order to uncover genetic variation that may contribute to the
heterogeneity of neuropsychiatric and neurobehavioral phenotypes of schizophrenia and psychosis.

'The project is an unprecedented international initiative to examine a common deletion associated with schizophrenia and elucidate its genomic and
behavioral substrates,' noted Dr. Gur. Professor Donna McDonald-McGinn, overall Co-Director of the Consortium, added further, 'Not only does this successful grant application demonstrate the genuine commitment on the part of the National Institute of Mental Health to better understand the brain and psychiatric illness, but it highlights the need for such international partnerships. In this instance, 22 clinical and 5 basic science collaborating sites, all with extremely dedicated clinicians and researchers who have overcome the challenges of differing cultures, languages, time zones, and healthcare systems, are working toward the common goal of improving patient care and long term outcome.'