We have exciting news to share with our Phelan-McDermid syndrome community! This year’s PMSF research grant will help drive groundbreaking science forward in the area of neuropsychiatric illness.
In January 2023, PMSF launched its research grants program to fund highly motivated scientists studying Phelan-McDermid syndrome. Our goal is to drive promising research that addresses the needs of our community. Thanks to the generous support of our donors, we are proud to continue this essential initiative into its third year, having awarded more than $500,000 in research funding to date.
For the 2025 PMSF Grant, the Board of Directors has once again allocated $100,000 for the Shannon O’Boyle Memorial Grant for Neuropsychiatric Illness. This special grant was created in recognition of the O’Boyle family’s significant contributions to our mission and supports research aimed at better understanding and treating neuropsychiatric illness in Phelan-McDermid syndrome.
This year, we received more applications from talented scientists and researchers worldwide for the Shannon O’Boyle Memorial Grant than in all previous years combined. The selection process was both incredibly challenging and deeply rewarding. Each application underwent a rigorous review by both scientific advisors and invested family members, and we are grateful to our reviewers for their time, expertise, and dedication. Most of all, we thank our donors, whose generosity makes it possible to support research that can change lives.
We are thrilled to announce the 2025 Shannon O’Boyle Memorial Grant recipient:
2025 PMSF Shannon O’Boyle Memorial Grant – Neuropsychiatric Illness:
Award Recipient: “Diagnostic Biomarkers in Phelan-McDermid Syndrome-Associated Neuropsychiatric Disease”
- Jonathan D. Santoro, MD, Associate Professor of Neurology and Pediatrics, Keck School of Medicine, University of Southern California, Children’s Hospital of Los Angeles, Los Angeles, CA
- Saba Jafarpour, MD, Assistant Professor of Neurology and Pediatrics, Keck School of Medicine, University of Southern California, Children’s Hospital of Los Angeles, Los Angeles, CA
Project Summary: Phelan-McDermid Syndrome (PMS) is a genetic disorder linked to autism, intellectual disability, and motor impairments. Some individuals also experience neuropsychiatric symptoms, including mood changes, regression, and functional decline.
This study explores whether immune system dysfunction contributes to these symptoms in PMS-associated neuropsychiatric disease (PMS-ND). By analyzing blood, cerebrospinal fluid, brain imaging (MRI), and electroencephalography (EEG) data from 30 individuals with PMS-ND, we aim to identify biomarkers of inflammation and brain changes. Findings may improve understanding of PMS-related neuropsychiatric disease and guide potential treatments.
This will be the largest prospective cohort of individuals with PMS-ND. Prospective, standardized, collection and validation of neurodiagnostic data in individuals with PMS-ND is critical. PMS-ND remains a diagnosis of exclusion and while comprehensive diagnostic testing is advised, the yield on many diagnostics remains unstudied. This proposal will generate integrated data sets that will follow longitudinal outcomes in a large cohort of individuals with PMS-ND and allow for the study team to determine the highest yield studies for diagnosing PMS-ND and predicting therapeutic responses. These results may provide insight into the underlying mechanisms of the disease and guide the development of targeted treatments for PMS-ND.
PMSF will update the community as this research project progress!
Congratulations, Drs. Santoro and Jafarpour! Stay tuned for a podcast episode featuring our new grant awardee at the end of the year.