James Noonan, Ph.D.

Associate Professor of Genetics, Yale University

SFARI Investigator Website

James Noonan is an associate professor of genetics and of ecology and evolutionary biology at Yale University, and a member of the Kavli Institute for Neuroscience. He received his Ph.D. in genetics from Stanford University in 2004 and did his postdoctoral training in genomics at the Lawrence Berkeley National Laboratory. He joined the Yale faculty in 2007.

Research in the Noonan lab focuses on two major areas: the genetic basis of uniquely human traits, and the discovery of neurodevelopmental regulatory mechanisms disrupted in autism spectrum disorder. Work in the Noonan lab has provided insight into the landscape of uniquely human regulatory changes in the genome, revealing specific loci with potentially large effects on human development. The Noonan lab discovered the first enhancer known to have gained a human-specific developmental function due to human-specific genetic changes. They have since pioneered comparative epigenetics approaches to identify uniquely human regulatory innovations by directly studying developing human and nonhuman tissues. This work revealed thousands of promoters and enhancers that have gained activity during human limb and neocortical development, and the specific biological pathways and processes altered by regulatory change in human evolution.

The Noonan lab is also building on recent gene discovery studies to map regulatory networks associated with autism risk in the developing brain, using high-resolution genetic and functional genomics approaches. They have found that the most prominent gene yet identified in these studies, CHD8, likely regulates other autism-associated regulatory genes during human neurodevelopment. The long-term goal of these efforts is to reveal common regulatory pathways underlying autism and the specific cell types and cortical regions in which those pathways are disrupted.


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