NIH R01 · 2025
ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Abstract: The corpus callosum – the largest fiber tract in the human brain, connects and integrates the two cerebral hemispheres. Agenesis of the corpus callosum (ACC) with an incidence of 1 in 2,000 occurs in rare syndromes and in common neurodevelopmental disorders (NDD) including epilepsy, intellectual disability (ID), autism spectrum disorder (ASD), cerebral palsy and schizophrenia. Collectively these affect more than 5% of the population and constitute a major public health concern. Recent evidence including from our team, points to the importance of genetic etiologies. Our whole exome efforts in this grant’s initial submission identified 70 ACC genes that reached genome-wide…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.