CARTA: Human Cognitive and Behavioral Variation with Daniel Geschwind

Human cognition and behavior are highly heritable and so is liability to disorders that affect them. This includes neuropsychiatric disorders such as schizophrenia and autism spectrum disorder (ASD). We have started to integrate genetic risk data with the emerging maps of gene regulation to study human specific aspects of gene expression and gene regulation. These analyses indicate that human specific aspects of gene regulation, such as genes regulated by human specific enhancers, are indeed enriched in mutations or common genetic variants that increase risk for ASD and allied neurodevelopmental disorders. This provides evidence that genetic elements underlying human brain evolution are particularly susceptible to disruption in disease. [12/2022] [Show ID: 38299]

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01:33 Presentation

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