By Meagan Hutchinson
In 2024, the Phelan-McDermid Syndrome Foundation awarded three research grants aimed not only at funding discovery but also changing lives. For families navigating the challenges of Phelan-McDermid syndrome, these grants are more than just scientific milestones, they give families hope! We funded the same grant topics chosen by you, the families, in 2023!
The Shannon O’Boyle Memorial Neuropsychiatric Illness Grant
The 2024 Shannon O’Boyle Memorial Neuropsychiatric Grant is titled, “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 (PIPS).” This study is being led by Tess Levy (CGC, Seaver Autism Center, Icahn School of Medicine at Mount Sinai), Dr. Pilar Trelles (Boston Children’s Hospital, Harvard Medical School), and Dr. Alexander Kolevzon (Seaver Autism Center, Icahn School of Medicine at Mount Sinai) as co-investigator.
This study addresses the need for more accurate measurement tools of neuropsychiatric illness in Phelan-McDermid syndrome to assess the presence or absence of specific symptoms and track these symptoms over time and in response to treatment. In the first part of this study, the researchers met with key stakeholders, including caregivers and medical experts, to get feedback on an already-existing version of the measure. After incorporating these voices, the researchers then went back to families to collect data on the modified version of the measure! Now, we anxiously await hearing their findings and hope that with additional data and validation, the measure will be available for more widespread use!
Check out the podcast discussion about this grant here.
PMSF Innovation Award
The 2024 PMSF Innovation Award targets at highly novel approaches that explore an understudied area of Phelan-McDermid syndrome research. The award-winning grant was titled, “Precision treatment for Phelan-McDermid syndrome: A novel pre-clinical approach.” This study is being led by Dr. Kristy Johnson (Northeastern University, Boston Children’s Hospital, Massachusetts Institute of Technology) with mentorship support from Dr. Helen Tager-Flusberg (Boston University).
Many people with Phelan-McDermid syndrome have limited speech, and current tools often fail to capture how they communicate. This can make it hard to show progress over time and leaves families feeling unheard. The Rapid Online Sample of Communication (ROSCO) project offers a quick, 15-minute Zoom session that records natural nonverbal and verbal communication between individuals with Phelan-McDermid syndrome and their families at home. Follow-up interviews include the family’s insights to help explain what certain individual-specific gestures or vocal sounds mean. This study will test how well ROSCO works over time and across age groups, aiming to create a more accurate, family-centered way to measure communication.
Ultimately, this project attempts to provide initial validation of ROSCO so that it can be used in future research studies and to enhance care. The researchers have enrolled 5 of the planned 20 families (individuals with Phelan-McDermid Syndrome ages 4 to 17.5 years) for the first part of this study and will continue to develop ROSCO.
Check out Part 1 of our podcast with Dr. Kristina Johnson here and part 2 here.
PMSF Translational Research Award
The 2024 PMSF Translational Research Award supported grant applications that bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments. This grant was awarded to Dr. João Peça (University of Coimbra) with assistance from Dr. Carlos B. Duarte (University of Coimbra) for their grant titled, “Non-Canonical Role of SHANK3 in Early Neurodevelopment.”
This work is focused on studying how SHANK3 may influence brain development by interacting with other proteins. The researchers are using patient-derived induced pluripotent stem cells (iPSCs) and mice to study this interaction and explore a potential new role of SHANK3. Thus far, the researchers have found that SHANK3 is also found in the nucleolus of the cell, which is an organelle that plays an important role in producing ribosomes for making proteins. By uncovering this “new” location of SHANK3, this work could offer new potential therapeutic strategies!
Check out the podcast discussion about this grant here.
We can’t wait to have these researchers share more updates related to their work at our 2026 PMSF Family Conference!
Thank you to our donors who made the funding of these projects and PMSF’s grant program possible! Your generosity has allowed us to drive the field of research for Phelan-McDermid syndrome forward.
We are so excited to announce our 2025 Shannon O’Boyle Memorial Grant winner in the coming weeks! Stay tuned!