CHOP Researchers Awarded $1.3 Million Grant from Eagles Autism Foundation

Rare Daily Staff

Eagles Autism Foundation, a nonprofit affiliated with the Philadelphia Eagles, awarded Children’s Hospital of Philadelphia more than $1.3 million over two years to support five autism research projects from various research labs across CHOP.

The projects span from building on ongoing and effective programs to novel approaches. The five projects were selected to receive funding beginning in 2025.

The grant recipients include:

• Hakon Hakonarson, director of the Center for Applied Genomics at CHOP, will lead a team of researchers studying variants of the ADGRB3 gene that may be related to autism. Learning more about the gene and functional impact of these variants may lead to potential diagnostic and treatment strategies.
• Laura McGarry, a fellow in the Division of Neurology at CHOP, and her group will investigate how impairment of inhibitory interneurons, which regulate neuronal activity in the brain, is critical to autism associated with Dravet syndrome, a neurodevelopmental disorder characterized by epilepsy in the first year of life and significant developmental delays.
• Jerome Clatot, director of the Epilepsy Neurogenetics Initiative (ENGIN), Ion Channel/Electrophysiology Core, and a research scientist at CHOP, will study mutations in the SCN2A gene that have been previously linked to autism. The goal of the project is to increase the understanding of the SCN2A gene and its role in brain development and research a potential therapeutic target for new treatments and therapies for autism.
• Naiara Akizu, assistant professor of Pathology and Laboratory Medicine at CHOP, is leading a project to study how small effect size genetic variants in chromatin regulators contribute to polygenic neurodevelopmental disorders, or disorders that can be caused by more than one mutation. Specifically, her team will study how common small effect size variants in chromatin regulators may lead to changes in gene expression, which could increase the neurodevelopmental disease burden.
• Additionally, CHOP’s Fostering Health Program received an Eagles Autism Foundation community grant to help children in foster care with autism spectrum disorder access services. The project will provide case management, address transportation barriers for families, and develop a resource guide for foster parents, health care providers and child welfare agencies.

Photo: Hakon Hakonarson, director of the Center for Applied Genomics at CHOP,