Upstate researchers involved in published work on finding schizophrenia and intellectual disability risk in 22q Deletion Syndrome patients
Several Upstate Medical University researchers are contributors to a recently published study about a new way to detect a higher risk for schizophrenia or an intellectual disability among those with a common genetic syndrome.
The study published Nov. 9 in Nature Medicine focuses on 22q11.2 Deletion Syndrome, which is caused by a missing piece of genetic material on the long (q) arm of chromosome 22. The syndrome occurs in about one in every 4,000 live births and is one of the most common genetic disorders along with Trisomy 21 (Down syndrome), cystic fibrosis and sickle cell disease.
The 22q11.2 deletion syndrome is also associated with a 20 to 25 percent risk of schizophrenia. This new study uses information from other parts of the genome to help identify that risk. Researchers used an analytical tool called polygenic risk scores to summarize the cumulative effect of thousands of small, common genetic variations.
The 13-page study titled “Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome,” was published earlier this month with contributions from more than 30 experts from around the world. Wendy R. Kates, PhD, professor emeritus in the Department of Psychiatry, and Wanda Fremont, MD, vice chair of child psychiatry at Upstate, both contributed.
The study published in Nature Medicine focused on the connections between 22q Deletion Syndrome and schizophrenia and intellectual disabilities. The study examined 962 people with 22q Deletion Syndrome.
“It is critical that we identify which individuals with this syndrome are most likely to display intellectual disability or develop schizophrenia, so that we can begin to provide them with individualized, early monitoring and targeted interventions,” Fremont said. “These findings represent an important step in this direction.”
The study’s authors belong to the International 22q11.2 Deletion Syndrome Brain Behavior Consortium (IBBC), which consists of researchers from 22 sites around the world, and is supported by the National Institutes of Health.
“Our team at SUNY Upstate has participated in the International 22q11.2 Deletion Syndrome Brain Behavior Consortium (IBBC) since its inception in 2011,” Kates said. “Our own team recently completed a nine-year longitudinal study of risk factors for schizophrenia in a large sample of individuals with 22q11.2DS. We have been able to extend the reach of our own study by pooling our data with our collaborators on the IBBC, and we look forward to Upstate’s continued collaboration with this international research consortium.”
Syracuse University Psychology Professor Kevin Antshel, PhD, who is also a clinical assistant professor of psychiatry and behavioral sciences at Upstate, also contributed to the study.
Caption: Wanda Fremont, MD, and Wendy Kates, PhD, are among the authors of a study recently published study about a new way to detect a higher risk for schizophrenia or an intellectual disability among those with a common genetic syndrome.