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Cincinnati and Boston Children’s Hospitals Receive an NIH Autism Center of Excellence Grant

Grant funds a five-center study tracking brain development in infants at risk for autism

Monday, November 19, 2012

Cincinnati/Boston--A network of five leading medical centers, led by Cincinnati Children’s Hospital Medical Center and Boston Children’s Hospital, has received a five-year, $12.5 million National Institutes of Health (NIH) grant to learn more about how autism develops.

The five centers, which also include the University of Alabama at Birmingham, Mattel Children's Hospital at UCLA (Los Angeles) and University of Texas Medical School at Houston, will study infants with tuberous sclerosis complex (TSC), a rare genetic disease that causes autism in about 50 percent of cases.

TSC is marked by tumors in the brain and other vital organs and can be diagnosed even before birth, making it possible to observe how the brain’s circuitry develops before autism becomes apparent. Through the newly formed TSC Autism Center of Excellence Research Network (TACERN), and in close collaboration with the national Tuberous Sclerosis Alliance, researchers will track infants diagnosed with TSC using advanced brain imaging techniques.

Previous pre-clinical research and human imaging studies led by Boston Children’s Hospital neurologist Mustafa Sahin, MD, PhD, has identified defects in axons (nerve fibers) and their orientation into nerve tracts in TSC, particularly in TSC patients that develop autism, supporting the growing idea that autism results from a miswiring of connections in the developing brain. Sahin’s lab has also shown that the defects arise from a biological pathway that can be reversed using the drug rapamycin. A clinical trial of a related drug, everolimus, is now ongoing at Boston Children’s and Cincinnati Children’s, with the goal of improving cognition and behavior.