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Autism progress? UNC-CH scientists report progress in unraveling genetics of the disorder

CHAPEL HILL - Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that rare variants in

Scientists Discover Biological Mechanisms Caused by Deficits in High-risk Autism Gene

Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that rare variants in the ANK2 gene

Scientists Find Genetic Cause, Underlying Mechanisms of New Neurodevelopmental Syndrome

Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome

Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children. Damaris Lorenzo, PhD, assistant professor in the UNC Department of Cell Biology and member of the UNC Neuroscience Center at the UNC School of Medicine, led this research, which was published today in the journal Nature Genetics. Lorenzo, who is also a member of the UNC Intellectual and Developmental Disabilities Research Center (IDDRC) at the UNC School of Medicine, is the senior author.

Scientists find genetic cause, underlying mechanisms of new neurodevelopmental syndrome