In January 2023, PMSF launched its research grants program to fund highly motivated scientists studying Phelan-McDermid syndrome. Our goal was to accelerate promising clinical research aligned with community needs. Scientists worldwide submitted applications across three main grant categories.
Thanks to the generous support of our donors we’re delighted to continue this essential initiative in 2024. This year, we received an even greater number of applications from around the globe, with submissions surpassing our expectations in both quantity and quality. This made the selection process particularly challenging, as we could only choose one winner per category.
Each grant application underwent a thorough review process, evaluated by both scientific advisors and invested family members. We extend our heartfelt thanks to all reviewers for their time and expertise. The selected grant recipients will receive financial support for a full year of research. We are thrilled to announce this year’s winners:
2024 PMSF Shannon O’Boyle Memorial Grant – Neuropsychiatric Illness:
AWARD DESCRIPTION: The PMSF Board of Directors has established an annual research grant of $100,000 in honor of Shannon O’Boyle and to acknowledge her family’s significant contributions. The grant will be used to advance research in neuropsychiatric illnesses and to keep Shannon’s legacy alive by inspiring and offering hope to all.
A successful proposal will advance research in either neuropsychiatric illness, challenging behaviors, or skill regression in Phelan-McDermid syndrome. Proposals can include foundational basic research in laboratory models or highly clinical studies in people with Phelan-McDermid syndrome.
AWARD WINNER: “Adapting PIPS for Progress: Development and Validation of an Ecological Momentary Assessment Tool to Enhance Psychiatric Symptom Monitoring and Intervention Response in Phelan-McDermid Syndrome”
- Tess Levy, CGC, Seaver Autism Center, Icahn School of Medicine at Mount Sinai
- Pilar Trelles, MD, Boston Children’s Hospital, Harvard Medical School
- Alexander Kolevzon, MD, Seaver Autism Center, Icahn School of Medicine at Mount Sinai
PROJECT SUMMARY: Psychiatric features in Phelan-McDermid syndrome are difficult to treat and manage for caregivers and doctors. Knowing which treatments are best is difficult because standard measures are rarely applicable to individuals with intellectual disabilities. The Phelan-McDermid Syndrome Inventory for Psychiatric Symptoms (PIPS) was developed to describe psychiatric features; however, it was not created to be an outcome measure, or a measure used before, during, and after treatment to capture change. Outcome measures are a critical component for clinical trials because we need to measure change in a reliable way to understand if a treatment is working. Additionally, we know that many individuals with Phelan-McDermid syndrome do not react in the expected way to many psychiatric medications, for example, antipsychotics have worsened symptoms in some individuals. In this study we aim to (1) adapt the PIPS to measure change in psychiatric symptoms over time with Phelan-McDermid syndrome experts and caregivers (2) build the new PIPS form into a smartphone application designed to capture behavior in an individuals’ natural environment, a strategy called Ecological Momentary Assessment, and (3) trial the application in clinical practice. Upon completion, we expect to have a reliable survey to capture change in psychiatric features over time, and results showing if a novel technology, EMA, is a feasible strategy to collect data from families during a clinical trial. This will lead to 1) clinical trial readiness for future research and 2) a way to measure response to medication in clinical care today, helping to guide specific medication recommendations according to real evidence.
2024 PMSF Innovation Award
AWARD DESCRIPTION: For highly novel grant applications that explore an understudied area of Phelan-McDermid syndrome research. Successful proposals will open new avenues of research in the field.
AWARD WINNER: “ROSCO: A Novel Virtual Natural Communication Paradigm for Individuals with Phelan-McDermid Syndrome”
- Kristina T. Johnson, Ph.D., Northeastern University; Boston Children’s Hospital (Research Affiliate); Massachusetts Institute of Technology (Research Affiliate)
- Mentor: Helen Tager-Flusberg, Ph.D., Boston University
PROJECT SUMMARY: Many individuals with Phelan-McDermid Syndrome (PMS) speak very few words and struggle with communication throughout their lives. Measures used for clinical trials and interventions often do not adequately capture the meaningful ways that Phelan-McDermid syndrome individuals are communicating. Not only does this make it hard to demonstrate communicative growth, but it can also be disheartening to families when these measures do not validate the ways they see their Phelan-McDermid syndrome individual progressing. Family members often have a unique understanding of their Phelan-McDermid syndrome individual’s communication, which is often not meaningfully included in current measures. A new measure is needed that can leverage families’ knowledge and capture a wide range of skills, without placing a high burden on families or requiring them to come into a lab.
This project tests a new type of communication measure called ROSCO (Rapid Online Sample of Communication). ROSCO uses Zoom to record communication exchanges between Phelan-McDermid syndrome individuals and their family members in their homes in 15 minutes. Family members are interviewed after the ROSCO to incorporate their knowledge into the communication measure. This measure has been shown to be feasible with Phelan-McDermid syndrome children. This study will test how reliable ROSCO is and whether it can capture change over time and differences in younger and older Phelan-McDermid syndrome individuals. This work will help inform researchers of the strengths of Phelan-McDermid syndrome individuals, provide accurate and measurable targets for clinical trials and interventions, and empower Phelan-McDermid syndrome families and individuals to be heard and understood.
2024 PMSF Translational Research Award
AWARD DESCRIPTION: For grant applications that bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments for Phelan-McDermid syndrome. Example areas of interest include but are not limited to follow-up characterization studies to drug screens, cross-disorder clinical approaches, funding for remaining experiments before solidifying a pharmaceutical relationship, and adjustment of assessments or the development of new assessments that more accurately measure Phelan-McDermid syndrome phenotypes. Applications with clinical relevance will be preferred.
AWARD WINNER: “Non-Canonical Role of SHANK3 in Early Neurodevelopment”
- João Peça, Ph.D., University of Coimbra
- Carlos B. Duarte, Ph.D., University of Coimbra
PROJECT SUMMARY: The SHANK3 gene plays a critical role in regulating neuronal connections, especially in areas of the brain involved in movement and cognitive processes. Past research has highlighted that mutations in SHANK3 can lead to problems in cortico-striatal pathways that originate from an active cortex during early age. However, exactly how disruptions in SHANK3 lead to this overactivity remains unknown.
Our recent findings suggest a new and unexpected role for SHANK3 during brain development. We found that in neuronal progenitor cells SHANK3 gathers in subnuclear compartments, that are essential for gene expression and regulation. We also found that loss of SHANK3 leads to an imbalance in key developmental gene expression, premature neuron formation and enlargement of the regions where neurons originate.
Based on these preliminary findings, we propose that SHANK3 may work by interacting with and gathering another important protein – HNRNPK -, which is crucial for brain development. Using patient-derived IPSCs and mutant mice we will better understand this interaction and assess the novel role of SHANK3 in the nucleus. This research will provide valuable insights and offer new directions for potential therapies that go beyond the role of SHANK3 at the synapse.