Headshot photo of Brian O'Roak, Ph.D.

Brian O'Roak, Ph.D.

  • Professor of Molecular and Medical Genetics, School of Medicine
  • Molecular and Medical Genetics Graduate Program, School of Medicine
  • Neuroscience Graduate Program, School of Medicine
  • Graduate Program in Biomedical Sciences, School of Medicine


I’m originally from California’s Central Valley. After earning a B.S. in Biology at CSU Fresno, I did my PhD studies at Yale University working with Dr. Matthew W. State in the Department of Genetics. I then went on for postdoctoral training in the Department of Genome Sciences at the University of Washington, under Drs. Evan E. Eichler and Jay Shendure. I joined the MMG faculty in Fall 2013.

My goal is to understand the molecular basis of neurodevelopmental disorders (NDDs) and have these fundamental insights translate into meaningful clinical interventions. My pioneering work in the last decade has focused on developing and implementing new research paradigms and technologies that challenge the genetic intractability of complex NDDs, especially autism spectrum disorder (ASD). Through these studies, and similar efforts by others, ~100 different genes are no longer merely ‘candidate’ genes for ASD risk, but are now ‘known’ genes based on their recurrent disruption by de novo mutations.

Defining the molecular mechanisms that underlie autism requires not only identification of critical genetic risk factors, but also understanding how they interact within a complex and developing system. In addition to our gene discovery efforts, our lab is now building a new paradigm that incorporates many different patient-specific mutations in a multitude of models with complementary strengths and weaknesses. Advances in genome editing, induced pluripotent stem cells (iPSCs), neurogenetics, and functional genomics have made this patient-specific approach feasible. Furthermore, we are focusing on mutations in genes that are master regulators of key biologic networks provides an avenue for reducing the phenotypic complexity of autism, biomarker discovery, and targeted personalized therapies that will have impact beyond a single risk gene.

Education and training

  • Degrees

    • Ph.D., 2009, Yale University

Memberships and associations:

  • American Society of Human Genetics
  • Society for Neuroscience

Areas of interest

  • Autism
  • Neurodevelopmental disorders
  • Genetics/genomics
  • Stem cells
  • Developmental neuroscience



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