Simons Foundation Fuels Studies to Unravel Autism
What lies at autism’s core? Over the decades, theories have abounded—most of them relying on clinical observations rather than brain circuitry. Only recently have sophisticated technologies allowed researchers to begin closing the gap between the consulting room and the laboratory.
With support from the New York-based Simons Foundation Autism Research Initiative (SFARI), Stanford scientists are driving the effort to unravel a confounding spectrum of disorders that affects 1 in 200 children in the United States. Autism has been on the rise globally, but the explosion of cases is difficult to explain. Societal awareness and shifts in diagnostic criteria certainly factor into the increase, as do the spikes in premature babies and older parents. But after years of hype, pediatric vaccinations have been ruled out as a cause. And only scant scientific evidence points to an environmental culprit. Questions outnumber answers in the scramble to help families.
Enter SFARI. Founded in 2003 to fuse the foundation’s interests in basic scientific research and learning disabilities, the initiative recently awarded $2.1 million to two Stanford projects. Ruth O’Hara, MD, an associate professor of psychiatry and behavioral sciences, received nearly $300,000 to deepen her exploration of links between sleep disorders and autism. The other $1.8 million was awarded to Thomas Südhof, MD, the Mrs. George A. Winzer Professor in Medicine.
A professor of molecular and cellular biology, Südhof shared the $1 million Kavli Prize for neuroscience in 2010 for his work in deciphering how messages travel from neuron to neuron across synapses. For the same work, he was a co-recipient of the Nobel Prize in physiology or medicine in 2013. The SFARI grant will further his investigation of synaptic proteins—neurexins and neuroligins—that have been uncovered as genetic risk factors for autism. The disorder’s selective, rather than global, impairments point to subtle problems in the brain’s wiring, Südhof believes.
We must now learn how these molecules lead to neural signatures of autism. He is in the forefront of this effort.
“Anything in the brain involves the synapse, so the synapse is a good bet [for investigation],” he said in a 2011 Stanford Magazine interview. “Dr. Südhof has done more than anyone to illuminate the structure and function of these important families of synaptic proteins,” said Gerald Fischbach, MD, SFARI’s scientific director. “We must now learn how these molecules lead to neural signatures of autism. He is in the forefront of this effort.”
Earlier SFARI grant recipients include Karen Parker, PhD, associate professor of psychiatry and behavioral sciences, who is looking to discover if defects in the hormone oxytocin play a role in social deficits—a defining characteristic of the disorder; neurobiologist Ricardo Dolmetsch, PhD ’97, who is using human stem cells to study autistic brain development in a petri dish; and Richard Tsien, PhD, the George D. Smith Professor of Molecular and Genetic Medicine, who is uncovering how a single-gene mutation might affect the development and function of a network of neurons, leading to autism. Once researchers at Stanford and elsewhere solve the autism conundrum, they can develop targeted treatments, closing the loop back to the consulting room.