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

June 27, 2016

What’s been the most interesting development in your area in the last two years?

We study the genetic basis of complex neurodevelopmental disorders, such as autism. In just the past few years, we have gone from virtually no high-confidence risk genes for autism to over 50 utilizing innovative cohorts and high-throughput sequencing! (Learn more in this webinar I recently gave.) Importantly, while these genes are each disrupted in only 0.1-1 percent of individuals with autism, they are “common” enough to study shared characteristics and develop targeted treatments. Already we have found many of these new risk genes, when disrupted, lead to recognizable autism “subtypes” with shared (but sometimes subtle) physical characteristics and common co-occurring problems. This is particularly exciting as these features may help kids get help earlier. Despite this complexity, many of these new risk genes are falling into a handful of common biological pathways/mechanisms. This makes me hopeful about the development of common therapeutic targets that can be matched to one’s personal genetic profile.

What projects are you currently working on and are there opportunities for fellow faculty to participate?

We are tremendously excited to be participating in an unprecedented effort to recruit 50,000 individuals with an autism diagnosis and their families into a nationwide research cohort called SPARK. OHSU is one of 21 clinical partners working to develop SPARK with the Simons Foundation Autism Research Initiative (SFARI), a private nonprofit effort that has been driving innovative autism-related research for the past decade. The main goal of SPARK is to rapidly accelerate the pace of autism research by linking families and researchers. As a first part of the SPARK study, we hope to discover or validate all of the most common additional autism risk genes. Faculty members at OHSU can participate by referring their patients to the SPARK team, spreading the word to friends and family members and providing input on what information is collected from and disseminated to the families. Moving forward, researchers will be able to partner with SPARK participants (at no cost) to conduct new studies that would have been impossible to conduct previously. Personally, I’m most excited about the possibility to rapidly translate our findings on these new genetically-defined subtypes of autism back to families.

What is the most important aspect of support that OHSU provides to you currently and how would you like this or other support to grow in the future?

One of the reasons I came to OHSU was the proximity of the clinical care to the basic science research. Since arriving about three years ago, I have yet to meet a clinical faculty member who wasn’t open to collaborating on a new project. Overall, I’ve been impressed with their knowledge, skill and commitment to move beyond our current knowledge to impact the lives of their patients. I’d like to see additional mechanisms that support clinical faculty participating in research and improvements in our translational and clinical trial infrastructure. To become a leader in personalized medicine now, we need to foster a community of clinical and basic science research teams ready to move quickly and seamlessly from bedside to bench and back again.

About Three Questions
This Q&A series features OHSU School of Medicine faculty members talking about their work with the goal of getting to know them and different areas across the school. View more