Research

Working Together to Transform Lives

“We have probably the best group of autism researchers in the nation right here at UNC."

“We have probably the best group of autism researchers in the nation right here at UNC."

Collaboration, expertise and passion are the heart of research at Carolina, making it a one-of-a-kind university with unmatched capabilities in interdisciplinary research. These capabilities are translated into many different sectors of research and development, one of the most notable being autism research. As an internationally ranked premier autism research university, Carolina brings world-renowned researchers together through the UNC Autism Research CenterOpens in new window to transform the lives of families impacted by autism.

Two such researchers — Ben Philpot, Ph.D., Kenan Distinguished Professor in the Department of Cell Biology and Physiology, associate director of the UNC Neuroscience Center and co-director of the UNC NIH T32 Postdoctoral Research Training Program, and Mark Zylka, Ph.D., Jeffrey Houpt Distinguished Investigator, professor in the Department of Cell Biology and Physiology, and director of the UNC Neuroscience Center — have been working together, making significant headway in autism research. Philpot and Zylka have been using their respective expertise in neurodevelopmental disorders and genetics to research a rare neuro-genetic disorder called Angelman syndrome.

“I’ve always wanted to do research that felt meaningful, but it wasn’t until I came to UNC that I really had the opportunity to change my research direction,” said Philpot. “As soon as I started meeting individuals with Angelman syndrome and their families it became incredibly meaningful. It provides so much meaning to realize that you can be working on something that can change people’s lives in a really powerful way.”

Zylka was drawn to researching Angelman syndrome for similar reasons. “You get the chance to interact with families, and you can tell that you, as a researcher, are their only hope,” he said. “You get the sense that your research really matters.”

Angelman syndrome drastically affects the intellectual capabilities and motor functions of humans. The disorder results when the maternal copy gene UBE3A does not work properlyOpens in new window. Zylka’s lab is using CRISPR/Cas9 technology to edit the gene to allow the paternal copy to serve as a backup for the faulty maternal copy. To increase the chances of success, Philpot’s lab is taking a different approach to restore a functional copy of UBE3A. Their discoveries have the potential to treat Angelman syndrome.

“There is currently no effective treatment or cure for Angelman syndrome,” said Zylka. “Our research has the potential to advance a first-of-its-kind treatment for a pediatric-onset autism spectrum disorder.”

This development in Angelman syndrome research would not have been possible without Carolina’s interdisciplinary approach to research.

“Working together — it just makes our work better,” said Philpot. “UNC is an incredibly collaborative environment. It’s wonderful to be at such a large institution where you don’t encounter egos that get in the way of doing good science. That’s empowering. It broadens the way in which you think about science and allows much better science to be performed. You see a certain extent of collaboration at other universities, but not to the extent at UNC.”

By bringing together scientists and researchers from different fields and backgrounds, the Autism Research Center has the potential to conduct profound research that will transform the lives of many.

“We have probably the best group of autism researchers in the nation right here at UNC — spanning from basic science to clinical science to even community outreach,” said Philpot. “It’s a depth and breadth that’s unparalleled in the autism world.”

“I feel like our hard work is validated almost every day,” said Zylka. “At UNC, we have the opportunity to not restrict ourselves and go where the science takes us. We’re always working hard and making incredible discoveries.”

UNC Autism Research Center Funding Priorities

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