Matthew State, MD, PhD

Genetics and genomics of developmental neuropsychiatric disorders

The State lab focuses on gene discovery in childhood neuropsychiatric and neurodevelopmental disorders and then on leveraging these findings to elaborate underlying pathophysiological mechanisms.

The State lab has a long standing interest in the identification of rare mutations contributing to childhood neurodevelopmental and neuropsychiatric disorders including autism, Tourette syndrome, brain malformations and, more recently, childhood onset Schizophrenia. We employ strategies ranging from traditional linkage analysis in unusual, highly informative pedigrees to high-throughput massively parallel sequencing of large cohorts. Our laboratory is also keenly interested in employing these genetic findings as a starting point to illuminate the biology underlying these conditions, with the ultimate goal of identifying novel treatment targets. In this regard, we undertake collaborations with a range of laboratories to investigate the neurobiological and systems biological consequences of the mutations we have identified.

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