NEW YORK (GenomeWeb News) – Emory University said on Tuesday that it will lead an effort to sequence the genomes of 1,000 people who suffer from 22q11.2 deletion syndrome as part of an international consortium that has received $12 million from the National Institute of Mental Health to study how this syndrome causes schizophrenia and other neurocognitive disorders.
Emory said it will receive around half of the $12 million to lead the genomics component of the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, which involves 23 member institutions in North America, Europe, Australia, and South America.
The syndrome, which occurs in roughly one in 4,000 live births, can impact nearly every part of the body and can lead to a wide range of abnormalities. Some individuals with the deletion have no related medical issues, but most have developmental delays, and some have autism or autism spectrum disorder, attention deficit hyperactivity disorder, and obsessive compulsive disorder.
This deletion also increases the risk of developing mental illnesses, including schizophrenia, depression, and anxiety, and around 25 to 30 percent of adolescents and young adults with the syndrome are at risk for developing psychotic illness.
"22q11.2 deletion confers the highest known genetic risk factor for schizophrenia, yet little is understood as to the mechanism," lead investigator Stephen Warren, chair of the Department of Human Genetics at Emory University School of Medicine, said in a statement. "By sequencing the entire genomes of 1,000 patients with this syndrome, some with and some without psychosis, we hope to uncover variation elsewhere in the genome that contributes to psychosis risk, not only in 22q11.2 deletion syndrome but also in idiopathic psychosis."
The consortium members have already provided data on 1,000 genetically and phenotypically characterized individuals with this syndrome, making it the largest such sample available.
Emory said it hopes that the genome sequencing will make it possible to find genetic variations that contribute to the heterogeneity of phenotypes that are involved in schizophrenia and psychosis.