The consortium encompasses 22 institutions in North America, Europe, Australia and South America. Researchers will collaborate on investigations of the genetic causes for the high rates of schizophrenia in children and adults with the disorder. Approximately 25 to 30 percent of teens and young adults with 22q11.2 deletion syndrome go on to develop schizophrenia, compared with only 1 percent of the general population.
“This funding will provide us with the opportunity to mount a virtually worldwide collaborative effort to identify the risk and protective factors for psychiatric illness in this very high-risk population,” said Tony J. Simon, a cognitive neuroscientist and professor in the Department of Psychiatry and Behavioral Sciences who directs the 22q11.2 deletion syndrome program at the MIND Institute.
“This consortium brings together 22 clinical and five basic science sites with extremely dedicated clinicians who are working together to improve patient care and long term-outcomes for people with 22q11.2 deletion syndrome,” he said.
The condition affects an estimated 1 in 2,000 to 4,000 people and is characterized by congenital heart defects that often require surgery, an opening in the roof of the mouth, immune system dysfunction, and significant feeding and swallowing issues. Most children have developmental delays or learning disabilities and delayed language acquisition.
Some children also may be diagnosed with autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder or anxiety. Later in life, people with 22q11.2 deletion syndrome are at an increased risk of developing psychiatric illnesses such as depression and anxiety, as well as schizophrenia.
All of the consortium sites have extensive experience with applying genomic and brain-behavior strategies to study individuals with 22q11.2 deletion syndrome and schizophrenia. Together, they have provided data on 1,000 genetically and phenotypically characterized individuals with the syndrome, the largest such available sample to date. The consortium’s genomic efforts will include whole-genome sequencing to uncover genetic variation that may contribute to the heterogeneity of neuropsychiatric and neurobehavioral phenotypes of schizophrenia and psychosis.
“The knowledge that this endeavor will generate will accelerate progress towards early identification and therapeutic intervention for those at greatest risk and will benefit millions throughout the world, whether they have 22q11.2 deletion syndrome or not,” Simon said.
Other sites in the United States include the University of Pennsylvania Health System, the 22q and You Center at the Children’s Hospital of Philadelphia, UCLA, Albert Einstein College of Medicine, Duke University, Emory University and the State University of New York Syracuse. Other sites are located in Canada, the United Kingdom, Ireland, France, Italy, Spain, Netherlands, Switzerland, Israel, Australia and Chile.