Researchers at UC San Diego are looking at autism in an entirely new way. By using stem cells to create a human cellular model of this pervasive condition, they hope to unlock its mysteries and develop new treatments.
Professor Alysson Muotri is leading this cutting-edge research, an effort to discover what causes autistic behavior and then identify chemicals or compounds that are able to reset an autistic brain back to the correct developmental track.
According to the Centers for Disease Control and Prevention, roughly one in 88 American children are on the autism spectrum, and the Autism Society estimates annual growth of 10% to 17% in the number of children being diagnosed with the disorder.
"Just better diagnoses cannot explain such high numbers," said Dr. Muotri, an assistant professor in the Departments of Pediatrics and Cellular and Molecular Medicine as well as a researcher at the Sanford Consortium for Regenerative Medicine at UC San Diego. He believes that the escalation is probably caused by a combination of genetics and environmental factors.
Muotri and his team are using stem cells from patients with Autism Spectrum Disorders to create one of the first human cellular models of the disorder that can be used for drug screening, diagnosis and personalized treatment. "It helps expand and deepen our understanding of autism, from a behavioral disorder to a developmental brain disorder," he explained.
He first became interested in researching autism through a curiosity about why the human brain is so unique, especially compared with other primates. This launched him into research to discover how the social side of the human brain develops at the cellular and molecular level.
"One way of doing this is to study situations where the social brain is not working properly," he said. "That's the case of autism, where patients have a lower sociability compared to the average." Muotri also studies the other end of the spectrum — Williams syndrome — in which those who are afflicted become "over social."
Muotri recently received a $1.85 million grant for his research with induced pluripotent stem cells, which aims to identify novel small molecule drugs with the potential to treat autism spectrum disorder.
This research is considered cutting edge for two main reasons. First, it uses the latest generation of genomic sequencing and editing tools and stem-cell biology to model the human brain. "This is only possible in the past few years due to exponential advances in these fields," Muotri said.
Second, the research is demonstrating that it's possible to correct some problems of autistic-derived neurons (such as fewer connections or synapses) with experimental drugs. "This observation challenges the dogma that neurodevelopment disorders, such as autism, are permanent," he said. "[They] may be reversed if we find the right condition."
The research has become personal for Muotri, who has been touched by the patients he has been working with.
"Autism is so mysterious and autistic people are so special that is impossible to stop thinking about them. If, at the end, we can make autistic patients more independent, with a better life quality, I would be very happy."