August 31, 2016

Eric Fombonne, M.D., is professor of psychiatry, OHSU School of Medicine.

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

I have been working with children with autism and their families for 30 years. When I trained, we knew next to nothing about the causes of autism spectrum disorders (ASD) and how to manage these disorders of child brain development. In fact, we had wrong theories about its etiology (parents were blamed) and about its “treatment” (unstructured talk or play therapies that did not work).

Systematic research into a better delineation of the autism phenotype and in the factors that influence developmental trajectories; the discovery of special educational and behavioral approaches that promote better outcomes; and the progressive unraveling of brain circuitry that underlies decreased functional connectivity between brain areas –all contributed to an improved understanding of this condition that affects about 1.5 percent of the child population. (We estimate that about 15,000 youths under age 20 have ASD in Oregon today.)

But it is the major progress accomplished in understanding the genetic architecture of ASD that has profoundly impacted our field in recent years. We now can put our finger on some genetic variants accounting for ASD in about 25-30 percent of the cases, and with the advances in molecular genetics and whole-genome sequencing, we expect this proportion to grow in the near future.  However, the complexity of the genetic risk is a challenge as there are already several dozens of genes identified as risk genes for autism, which each account for a very small proportion (less than 0.5 percent) of the disorder. Thus, most families with affected relatives do not share the same genetic characteristics despite having children with similar clinical syndromes.

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

Since 2006, the Simons Foundation, through its  Simons Foundation Autism Research Initiative (SFARI), has been driving an unprecedented research effort to accelerate the pace of discovery in ASD research. Several OHSU investigators contributed to the most informative genetic study (the Simons Simplex Collection) that led to the aforementioned novel findings.

To make sense of the heterogeneity of ASD both clinically and biologically, we needed to get to a new level and collect data on much bigger samples. Pursuing its efforts, the Simons Foundation has launched an innovative project that consists of recruiting 50,000 individuals (children or adults) with an ASD diagnosis and their relatives into a nationwide research cohort called SPARK.

OHSU is one of 21 academic centers funded to achieve that goal. The research cohort will be genetically characterized and will pave the way to a better understanding of the genetics of ASD. OHSU faculty members have started to help us by referring their patients to the SPARK team. We also engage in a number of partnerships with community organizations, professional societies, self-advocacy groups and have started a media campaign with the support of the OHSU media team.

In the near future, the research cohort will be open to investigators aiming at examining aspects of autism that would be otherwise difficult to study; for example, how adults with autism live and age in diverse communities, what are their unmet needs for medical care, or how those who have established families experience parenting and family life.

SPARK participants will have access to scientifically valid information about research findings and resources and will hopefully be part of a culture of supportive networking and mutually beneficial collaboration with academia. The size of the cohort will allow us to study large enough samples defined by similar genotypes, paving the way to find new treatments for specific gene profiles and personalized medicine.

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?

OHSU has all the key ingredients necessary to contribute substantial advances in autism research. The excellence of neurosciences and medical genetics, the unique suite of neuroimaging facilities, the rare resource of a primate center, population health and health services research are areas of excellence, to name a few. There is a rare spirit of collaboration between investigators, a disposition that is critical for developing horizontal connections between disciplines and achieving a research model that is truly translational.

This is exactly what autism research requires to be successful and to impact the lives of our patients. We also have partnerships with other Oregon universities that complement OHSU research well in domains such as education, environmental toxicity or population health research. Transdisciplinary work is already under way.

We need to further strengthen our links with community organizations and engage in dissemination and knowledge-transfer activities that will meet the needs of the Oregon population. To consolidate OHSU autism research and train the next generation of clinicians and scientists devoted to working with people with developmental impairments, we also need financial support to attract and retain the best investigators and the most promising students, and to give us flexibility in an increasingly challenging funding environment. In many U.S. states, major businesses and companies have been key supporters of academic autism centers; it can happen in Oregon, too.

About Three Questions

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