Meet the 2025 Eagles Autism Foundation Award Recipients

Learn about the five projects that received funding from the Eagles Autism Foundation.

The Eagles Autism Foundation chose to fund five projects related to autism research and care at Children's Hospital of Philadelphia. This year's funding supported three pilot grants, a postdoctoral fellowship, and a community grant. Read on to learn about the projects and their respective goals.

Pilot Award Recipients

Hakon Hakonarson, MD, PhD

Molecular Mechanisms of the Autism-Causal Gene, ADGRB3

Project Leader:

Researchers at the Center for Applied Genomics at CHOP identified a new gene linked to autism called ADGRB3, also known as BAI3. BAI3 plays a crucial role in how brain cells form connections and remove excess ones, a process known as synaptic development and pruning.

The team discovered a rare loss-of-function mutation in this gene that appears to disrupt normal brain signaling, especially involving glutamate, a key neurotransmitter in learning and behavior. They believe that this disruption may help explain certain features of autism, such as difficulties with communication and sensory processing.

To study this further, the team is working with human stem cell-derived neurons and zebrafish models to see how the mutation affects brain function and behavior. The team is also testing whether a targeted treatment, either a drug that activates ADGRB3 signaling or one that balances glutamate levels, can reverse these effects either alone or in combination. Additional research is looking at patterns in blood and other genes that interact with ADGRB3 to better understand its role in autism and how it might be treated.

"Our discovery of ADGRB3 as a novel autism risk gene is a major step forward in understanding how disrupted synaptic signaling may contribute to the condition," Dr. Hakonarson said. "By pinpointing how this gene affects brain development and function, we now have a promising target for future therapies that could potentially improve outcomes for individuals on the autism spectrum."

Naiara Aquizu, PhD

Uncovering the Burden of Chromatin Dysregulation in Autism Spectrum Disorders

Project Leader:

Naiara Aquizu, PhD, and her team are seeking to uncover how subtle genetic changes in chromatin regulators, when combined, disrupt neural development and contribute to autism spectrum disorders (ASD). While traditional research has focused on single-gene mutations, many neurodevelopmental disorders, including ASD, are polygenic in nature, resulting from the cumulative impact of multiple genetic variants.

To tackle this complexity, the team is taking a multidisciplinary approach that integrates advanced functional assays in human pluripotent stem cells and Drosophila models with patient genetic data to uncover pathogenic combinations of chromatin variants that cause ASDs.

"By uniquely bridging experimental biology with patient genetic analysis, we hope our approach will lay the groundwork for studying polygenic disorders and provide new insights into the pathogenic mechanisms driving ASD," Dr. Aquizu said. "We are thrilled for the support of the Eagles Autism Foundation for our project."

Laura McGarry, MD, PhD

Post-doctoral Fellowship Recipient

The Mechanistic Basis of Autism Spectrum Disorder in Dravet Syndrome

Project Leader: Laura McGarry, MD, PhD

Dr. McGarry's research project aims to uncover mechanisms of autism in an animal model of Dravet Syndrome, a genetic neurodevelopmental disorder caused by pathogenic variants in the voltage-gated sodium channel gene SCN1A. Dravet syndrome is the most common genetic epilepsy and presents with infantile-onset refractory epilepsy and high rates of ASD.

Dr. McGarry's preliminary data identified a developmentally regulated impairment of inhibitory interneurons in animal models. She will investigate the consequences of impaired inhibition in the striatum using cutting-edge techniques for recording and manipulating neuronal activity and linking specific cell types to behavioral phenotype.

"These findings will identify the key neural circuits underlying features of autism in Dravet Syndrome, which can inform how emerging genetic and cellular therapies for Dravet Syndrome could be targeted to improve developmental outcomes," Dr. McGarry said. "This project will yield not only essential advances in Dravet Syndrome but also identify mechanisms that might generalize to all of ASD."

Kristine Fortin, MD, MPH

Community Grant Recipient

Addressing Needs of Children in Foster Care with Autism Spectrum Disorder

Project Leader: Kristine Fortin, MD, MPH

The goals of this project, led by Kristine Fortin, MD, MPH, are to provide support including case management and transportation for children served by the Fostering Health Program in need of ASD services, as well as to develop a resource guide detailing community service. The guide will also highlight strategies for mitigating foster care-related barriers to accessing ASD services for distribution to foster parents, healthcare providers, and child welfare agencies.

"Timely ASD diagnostic and therapeutic services are especially critical for children in foster care to promote resiliency and support stable, nurturing placements during their time in foster care," Dr. Fortin said. "However, children in foster care experience unique barriers to accessing ASD services, including information about past medical history that may be limited, consent barriers, insurance changes upon foster care entry, and healthcare interruptions. Therefore, there is a need for this project to support the needs of children in foster care with ASD and their families."

Jerome Clatot, PhD

Targeting Nav1.2 Associated Protein Interactions to Rescue Sodium Current in SCN2A Associated Autism Disorders

Jerome Clatot, PhD, was unavailable for comments about his project.

The Eagles Autism Foundation hosts the annual Eagles Autism Challenge May 17, which includes a 5K Walk and Run, 10- and 30-mile bike rides, a sensory walk, and much more. Proceeds from this event will fund innovation in our understanding of ASD for years to come, at CHOP and in institutions around the world. Everyone is encouraged to register.