Brian O'Roak

Brian O'Roak is a Professor in the Department of Molecular and Medical Genetics at Oregon Health & Science University (OHSU), part of the School of Medicine. He holds a B.S. in Biology from California State University, Fresno, and a Ph.D. in Genetics from Yale University. His postdoctoral training was at the University of Washington under Drs. Evan Eichler and Jay Shendure.

His research focuses on understanding the molecular basis of neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD). He pioneers technologies to identify genetic risk factors and translate findings into clinical interventions. Key approaches include genome editing, induced pluripotent stem cells (iPSCs), and functional genomics to study patient-specific mutations. Recent work emphasizes understanding how genetic mutations impact developmental pathways and networks, with an aim to develop biomarkers and therapies.

• Education:
  • B.S. Biology, California State University, Fresno
  • Ph.D. Genetics, Yale University (2009)
  • Postdoctoral Training: University of Washington (Genome Sciences)
• Lab Focus:
  • Gene discovery in ASD
  • Patient-specific mutation modeling
  • Stem cell and neurogenetics approaches
• Clinical Translation:
  • Returns genetic research results to participants in large cohorts
  • Develops scalable genotyping methods (e.g., Cas12a-Capture)

Publications highlight contributions to autism genetics, including identifying ASD-associated genes like CHD8 and TBR1, and studying mechanisms of chromatin remodeling. Collaborative efforts such as the SPARK cohort and Healthy Oregon Project advance population-level insights. His work bridges basic science and clinical application, aiming to reduce phenotypic complexity and improve personalized therapies.