Driving Research Breakthroughs
Funding research, treatments, and cures for Phelan-McDermid Syndrome
The Phelan-McDermid Syndrome Foundation is proud to launch Driving Research Breakthroughs, a new way for donors to directly invest in research that matters most to our community.
This dedicated fund supports innovative science aimed at delivering research, treatments, and cures for Phelan-McDermid syndrome. Every grant we fund is chosen with input from families, ensuring your gift drives science that makes a real difference for our loved ones.
Our Impact So Far
Since the inception of the PMSF Grants Program in 2023, we have proudly awarded more than $500,000 to researchers across the world. These projects are fueling groundbreaking clinical research aligned with the priorities of our families.
To date, seven grants have been funded, with an eighth $100,000 grant to be awarded earlier this year. Each proposal undergoes rigorous review by our Scientific Advisory Committee and engaged family members to ensure funding goes to the most promising, impactful work.
Grants by Year
- 2023: Neuropsychiatric Grant, Innovation Grant, Translational Grant, including early-career scientists who have now joined the Phelan-McDermid syndrome research community.
- 2024: Shannon O’Boyle Memorial Neuropsychiatric Grant, Innovation Grant, Translational Grant.
- 2025: Shannon O’Boyle Memorial Grant – Neuropsychiatric Illness (applications under review).
What We’ve Funded
Thanks to donor support, PMSF grants have already made an impact by funding projects such as:
- Testing donated cells from people with Phelan-McDermid syndrome to identify potential new drugs that could lead to future treatments
- Exploring new roles of the SHANK3 gene in early development to better understand how PMS begins
- Studying gut motility and creating a mobile app to track GI symptoms, helping families and doctors better manage GI challenges
- Examining how the immune system may contribute to psychiatric symptoms in people with Phelan-McDermid syndrome
- Building improved tools to measure communication and psychiatric changes tailored for our community
Each of these projects reflects what families tell us is most important, improving daily quality of life while pushing us closer to future treatments and cures.
Why We Need You Now
Interest from researchers is growing quickly, and the number and quality of applications far exceed what we can currently fund. With your support, we can expand our reach and bring even more groundbreaking projects to life.
Your gift, no matter the size, can directly shape the science families need most. For example:
$50 can cover the cost of basic lab supplies for a day
$500 can support the collection of a biosample from an individual with Phelan-McDermid syndrome
$10,000 can help create an iPSC line from a donated sample, enabling scientists to study Phelan-McDermid syndrome at the cellular level
$15,000 can support a graduate student’s research for one semester
$44,000 can cover one year of graduate student salary on a Phelan-McDermid syndrome research project
$98,000 can support one year of a postdoc working exclusively on Phelan-McDermid syndrome
Our first goal is to raise $50,000 in restricted donations for the Grants Fund, and with your help, we can go even further.
Ways to Give
You can donate:
- By check (please note “PMSF Grants Fund” in the memo)
- Through a Donor Advised Fund, stock transfer, or IRA distribution — just be sure to designate your gift for the PMSF Grants Fund.
Hear from the Community
In our latest podcast episode, hear from Megan O’Boyle, mom to Shannon and a devoted advocate whose family has been instrumental in PMSF since its earliest days. Megan shares why this campaign is so important to the Phelan-McDermid syndrome community.
Together, with your voice and your support, we can continue funding the science that matters most to families and bring treatments and cures closer for everyone living with Phelan-McDermid syndrome.