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.