We care about autism spectrum disorder
We are basic scientists studying synapses, neuronal circuits, and genetics. We are researchers trying to understand language processing, cognitive functioning and the neuropathology of sleep. We are clinicians spending hours with families, diagnosing and navigating the journey of autism.
OHSU has a long history of studying, diagnosing and caring for children with autism and their families. The Child Development and Rehabilitation Center has been combining clinical excellence with innovative research for over 100 years at the Portland and Eugene campuses. The entirety of that time has included a space for autism.
In 2012, international autism expert Eric Fombonne, M.D., was recruited to OHSU to continue and expand OHSU’s expertise in autism spectrum disorders. In 2022, we received over $20 million in grants related to autism and neurodevelopment disorders from the National Institute of Mental Health, Autism Speaks, Simons Foundation, International Society for Autism Research, and countless others. Our research breakthroughs include the discovery of two specific genes associated with autism and the role of glia in inducing neuronal dysfunction in Rett syndrome, one of the most severe forms of developmental disability in young girls.
We care about autism spectrum disorders and invite you to learn more about our projects from “bench to bedside.”
How do we take basic research from the bench to the bedside?
Basic research focuses on fundamental processes at the level of the organ, tissue, cell, and molecule. The knowledge generated can impact broad sectors of science and inform understanding of specific disorders but its goals are not primarily disease-focused. An example is the structure of DNA, which when discovered immediately revealed how one of the double-strands serves as a template for fast, precise copying when cells divide. Basic discoveries can be translated by investigating what they reveal about a particular disorder and its biology. With that translational lens, scientists gain insight into poorly understood disease processes, which can ignite ideas for new treatments. If those candidate therapeutics continue to show promise as they are subjected to pre-clinical studies, they may reach the stage of testing in a clinical trial to determine their impact on symptoms or on the underlying disease process. Basic or ‘bench’ research is foundational. Clinical research is done in the clinic or at the ‘bedside’. The ‘bench to bedside’ paradigm for developing treatments is a simple way to describe the cycle of discovery and the translation of basic research to yield a clinical impact.
The cause of most diseases is unknown. Without a clear view of the earliest changes leading to a disease process, scientists lack a target for developing treatments. The most impactful treatments aim to stop a disease process early in its tracks before further damage accumulates. A distinct group of disorders for which the precise cause is known are genetic disorders due to mutations in a specific gene. Though most genetic disorders are individually rare, there are over 10,000 of them, affecting 4-6% of the global population. Since the precise cause of many genetic disorders is now known, they are ideal models to probe for biological differences and target treatments.
Though most people with autism lack a known genetic cause, commonalities among the genetic autism disorders will advance knowledge to help with understanding all autism. At OHSU, several rare genetic forms of autism are under investigation, including TBR1-related autism, BPAN, and Rett syndrome. Our faculty are leaders in dissecting disease biology with a focus on gaining enough basic understanding to translate into new therapies. The common outcome of autism spectrum disorder arising from differences in any one of the autism genes means that work on a specific autism disorder will serve the whole community.
OHSU researchers collaborate across specialties
Biomedical research is increasingly complex as our understanding deepens. In order to advance a research program that focuses on a specific group of disorders, like autism, scientists from different disciplines collaborate. The value of collaboration is in bringing together diverse expertise and different ways of thinking about problems in order to formulate innovative ways to solve them.
OHSU autism investigators come from a diverse range of disciplines and collaborate freely across units at the University. Though we also collaborate with scientists across the U.S. and abroad, we benefit greatly when our collaborator is just down the hall or a short walk across campus. A basic scientist in the Vollum Institute might find that they can move their studies in a translational direction by collaborating with a behavioral expert in the CDRC, and OHSU makes it easy to build such teams. Though most programs collaborate broadly, a few specialized groups at OHSU harbor the full ‘bench to bedside’ capabilities within their team. This often means that clinician-scientists are part of the team and that a small group of experts is enough to lead a research program from basic discoveries to clinical trials.
Brian O’Roak is easy to spot. The "sideburn-sporting scientist" is one of several leading researchers at OHSU navigating the questions of how genes are related to autism spectrum disorder. In 2016, Dr. O’Roak’s lab, along with 20 other sites across the U.S., launched SPARK, the largest genetic study of autism ever.
Six years later, in September 2022, that project came to fruition in a paper published in Nature Genetics. The research team analyzed 19,843 participants with autism, along with one or both of their biological parents. They identified a first set of candidate risk genes, or genes that indicate an increased likelihood — but not guarantee — of developing autism. O’Roak’s team then tested these candidate genes in another 22,764 individuals with autism and 236,000 people without autism from other studies. By analyzing and combining results from these studies, they identified 60 highly significant autism risk genes, five of which are newly associated with autism.
40 under 40: Marissa Co, Ph.D., is named one of the 40 rising young star researchers working on autism-related science
Spectrum, December 22, 2022
OHSU leads research on health disparities in autism care, other early childhood communication disorders
OHSU News, December 15, 2022
Discovery gives insight into brain function, breakdowns
OSHU News, October 19, 2022
OHSU experts tapped for national Artificial Intelligence initiative
OHSU News, September 13, 2022
OHSU supports research collaboration identifying genes linked to autism
OHSU News, September 1, 2022
Something to hold onto: Rare Champion of Hope recognizes molecular geneticist Susan Hayflick, M.D.
OHSU News, December 1, 2021
Eric Fombonne: Crossing continents to expand autism science
Spectrum News, September 7, 2021
How to prevent tragic encounters between autistic youth and law enforcement
AAP Voice Blog, Sept. 16, 2020
OHSU discovers cell in zebrafish critical to brain assembly, function
OHSU News, September 8, 2020
Historical Autism study enters fourth year, giving families answers, hope
KATU-TV, February 18, 2019
Taking action to understand the genetic causes of autism
OHSU News, April 25, 2019
Genetic testing for autism matters
OHSU News, April 25, 2019
Giving patients a voice
OHSU News, May 14, 2019
OHSU physician-scientist focuses on a good night’s sleep
OHSU News, May 13, 2019
Rising Star: Damien Fair, never at rest
Spectrum News, January 9, 2019
Could this sideburn-sporting scientist crack the autism gene puzzle?
Ozy, August 2, 2018
OHSU doctors partner with hundreds of families for in-depth autism study
KATU TV, May 17, 2018
Brain scans may uncover signs of autism and developmental delays
Around the O, April 25, 2018
Attention deficit disorder, autism share cognitive problems
Spectrum, March 22, 2018
Notable papers in autism research in 2017
Spectrum, December 22, 2017
Autism in Adulthood, a new peer-reviewed journal launching in 2019
EurekaAlert!, December 15, 2017
Inherited brain activity may guide treatment for autism, ADHD
UPI, November 2, 2017
Sizable fraction of autism risk traced to 'mosaic' mutations
Spectrum, September 14, 2017