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August 03, 2017

Penn to launch genetic research program on Asperger syndrome

Gift will fund collaborative studies with experts from around the globe

A $5.4 million gift from an anonymous donor will enable the University of Pennsylvania to launch a research program for Asperger syndrome, opening the door to a better understanding of the genetics behind the condition.

The Perelman School of Medicine announced this week that the Asperger Syndrome Program of Excellence (ASPE) will serve as a resource for both individuals and families affected by Asperger's and clinical researchers from around the world.

Research funds will support faculty, postdoctoral fellows and graduate students in conducting family-based genetic studies and creating modeling systems based on gene mutations found in previous genome-wide association studies of Asperger syndrome and autism spectrum disorders (ASD) as a whole. 

“Penn is poised to make genetic discoveries that will significantly improve how the medical community approaches Asperger syndrome,” ASPE Director Daniel J. Rader said. “ASPE will draw on our strength in genetics and psychiatry to push the field ahead to create new options for individuals and families. We are fortunate to be partnering with a truly forward-thinking philanthropist.”

An international symposium scheduled for next spring will review early findings and stimulate ideas for collaborative research with experts at leading institutions.

Asperger syndrome is distinguished as a form of ASD in that intellectual disability isn't present among those with the disorder, though the separate diagnosis was eliminated in 2013. A major focus of ASPE will be to investigate a specific gene, NRXN1, that codes for a protein associated with Asperger's. Researchers will work with individuals and families to compare genomes with and without mutations to NRXN1.

Genetic research at ASPE will differ from other programs in that it will study a range of neurodevelopmental conditions that varying degrees of severity from an intellectual and behavioral standpoint.

“The overall goal of ASPE is to uncover the full picture of how NRXN1 mutations interact with other gene variants to contribute to Asperger syndrome and other neurodevelopmental conditions,” Rader said. “Guided by these discoveries, the team will explore precise new treatments to improve the lives of individuals affected by Asperger syndrome.”

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