NIMH new innovator award recognizes leader in autism research

Brian J. O’Roak, Ph.D., assistant professor of molecular and medical genetics in the OHSU School of Medicine.

Brian O’Roak was one of 11 scientists to receive the 2017 NIMH BRAINS award.

The National Institutes of Mental Health has awarded a highly competitive research grant to Brian J. O’Roak, Ph.D., assistant professor of molecular and medical genetics in the OHSU School of Medicine. The grant, $2.5 million over five years, is part of the NIMH Biobehavioral Research Awards for Innovative New Scientists, or BRAINS, program and recognizes O’Roak as an autism research innovator who has the potential to transform the field.

The BRAINS program was established in 2009 to assist early-stage investigators in launching innovative research programs that hold the potential to profoundly transform the understanding, diagnosis, treatment or prevention of mental disorders. O’Roak was one of only 11 scientists receiving the 2017 BRAINS award.

Over the past decade, O’Roak has conducted pioneering work into the genetics of complex neurodevelopmental disorders, such as autism. Through these efforts hundreds of novel autism risk genes have been identified. Moving forward, O’Roak and his team will use the BRAINS award to begin to unravel how patient-specific mutations in the autism risk gene, TBR1, alter the developing brain. TBR1 is a recently identified high confidence autism risk gene, which is mutated in roughly 0.2 percent of individuals with autism. This equates to thousands of individuals in the US with TBR1-related autism spectrum disorder. The TBR1 protein functions as a transcription factor that controls whether hundreds of target genes are expressed or repressed during brain development. These target genes collectively form a TBR1-regulated network or pathway. TBR1 also regulates roughly one-third of other high confidence autism risk genes, making it a potential ‘master regulator’ of a critical autism-related network.

To understand how mutations in TBR1 affect human brain development, the lab will use cutting-edge methods including, ‘adult stem cells’ and 3D printed miniature bioreactors to mimic brain development in a lab dish. Kevin Wright, Ph.D., assistant professor in the Vollum Institute, and Andrew Adey, Ph.D., assistant professor of molecular and medical genetics and the Knight cardiovascular institute, are co-investigators on the project, bringing complementary expertise in modeling brain development and single-cell genomics. By understanding this master regulator, the team hopes to have an unprecedented view into a potential common genetic path that leads to autism.

O’Roak’s team hopes to leverage this new knowledge for early interventions and biologically based personalized therapies, which could improve the lives of individuals affected by autism. In addition, O’Roak co-leads the OHSU network site for SPARK, the largest autism study ever conducted in the United States. The project aims to accelerate autism research by creating a national registry of 50,000 individuals and families affected by autism. He has previously been awarded the Alfred P. Sloan and Klingenstein-Simons fellowships in neuroscience and the NARSAD Young Investigator award.

O’Roak was presented with the BRAINS award at the 2017 Society for Neuroscience meeting in Washington D.C. on November 12.

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  1. Wow, congratulations, Brian!

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About the Author

Casey Williamson writes about research at OHSU.

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