Phelan-McDermid Syndrome Foundation

Phelan-McDermid Syndrome Foundation Our official Foundation page aims to raise awareness of Phelan-McDermid syndrome

This is the official page of the Phelan-McDermid Syndrome Foundation, a 501 (c)(3) non-profit established by families impacted by a diagnosis of Phelan-McDermid syndrome/22q13 deletion.

🎉 We’re thrilled to announce the Abstract Winners for the 2026 PMSF Family Conference!After reviewing an outstanding poo...
06/04/2026

🎉 We’re thrilled to announce the Abstract Winners for the 2026 PMSF Family Conference!

After reviewing an outstanding pool of submissions, we have selected four abstracts that showcase innovative Phelan-McDermid syndrome research by early career investigators.

🧠 Dr. Minqing Jiang, a research scientist at the Massachusetts Institute of Technology, will present his work on behavioral phenotypes and neuronal biomarkers in a non-human primate model of Phelan-McDermid syndrome.

🔥 Dr. Sheng-Nan Qiao, an associate research scientist at Yale University, will present her work on neuroinflammation in a mouse model of Phelan-McDermid syndrome.

🎮 Amanda Fath, a PhD Candidate at the Massachusetts Institute of Technology, will present her cross-species work on perceptual deficits in Phelan-McDermid syndrome.

🧬 Lidia Garcia-Pradas, a PhD candidate at the University of Miami, will present her work on pathway changes in the gut in a zebrafish model of Phelan-McDermid syndrome.

Congratulations to our Abstract Winners!

Join us to explore their posters on Friday, July 18, and don’t miss the Abstract Award Winners session on Saturday, July 19 at the 2026 PMSF Family Conference.

Link to the agenda in the comments.

❓What’s a clinical trial? What does a Phase 2 trial mean? What about Phase 3? What should I be asking the study team? Ho...
06/03/2026

❓What’s a clinical trial? What does a Phase 2 trial mean? What about Phase 3? What should I be asking the study team? How do I know if a clinical trial is right for my family?

Join the National Organization for Rare Disorders (NORD)’s webinar on “Participating in Clinical Research: What Patients and Families Need to Know”. Phelan-McDermid Syndrome Foundation is a proud member of NORD. 💚

Whether you’re just curious or actively exploring options, this easy-to-follow webinar will explain how clinical trials work, why they matter, and what participation looks like day to day! You’ll learn key terms, what to expect, and where to find trusted support.

đź“… Date: Thursday, June 11, 2026
đź•Ł Time: 2:00 PM ET

*Note this webinar is NOT specific to Phelan-McDermid syndrome. This is an educational webinar about clinical trials in general.

Registration link in the comments.

The Phelan-McDermid Syndrome Foundation welcomes Christopher Winrow, PhD, to its Board of Directors.Chris brings decades...
06/01/2026

The Phelan-McDermid Syndrome Foundation welcomes Christopher Winrow, PhD, to its Board of Directors.

Chris brings decades of experience in neuroscience, drug discovery, and biotech leadership, along with nearly 20 years of dedication to the Phelan-McDermid syndrome community as a volunteer, advocate, and parent.

As Vice President of Neuroscience at Recursion Pharmaceuticals, Chris leads innovative research efforts using AI and machine learning to advance therapies for neurodegenerative diseases.

Please join us in welcoming Chris to the Board as we continue advancing research and supporting families worldwide.

Read the full announcement by visiting the link in the comments.

Our third and final Pathways focus group of the spring will be focused on neuropsychiatric illness in Phelan-McDermid sy...
05/29/2026

Our third and final Pathways focus group of the spring will be focused on neuropsychiatric illness in Phelan-McDermid syndrome. Your input will directly shape our conference discussions and inform the development of family-facing symptom guides.

If you are a caregiver, self-advocate, or clinician with experience managing neuropsychiatric illness in Phelan-McDermid syndrome, we invite you to join the conversation. Please note that this focus group is intended to be a discussion with parents whose children have experienced or are currently experiencing neuropsychiatric illness.

Pre-work is required. Please register using the link in the comments and then keep an eye out for an email from [email protected] with the link to the required pre-work survey. Please note that your registration will be approved only after you have submitted the pre-work survey. Please email [email protected] with any questions.

đź‘€Check out our CARE and CURE speakers for the 2026 PMSF Family Conference! We are excited to have a great mix of familia...
05/28/2026

đź‘€Check out our CARE and CURE speakers for the 2026 PMSF Family Conference! We are excited to have a great mix of familiar faces and first time attendees.

Who is speaking on what topics? Our full conference agenda is available now!

Link to the full agenda in the comments!

Help Improve Understanding of Development in Phelan-McDermid syndromeCaregivers of individuals with Phelan-McDermid synd...
05/27/2026

Help Improve Understanding of Development in Phelan-McDermid syndrome

Caregivers of individuals with Phelan-McDermid syndrome are invited to participate in a remote research study focused on developmental milestones. Participation includes online surveys completed at three timepoints over 12 months. Compensation is provided for completed study-related surveys. Learn more and see if you qualify using the link in the comments.

Eligibility:
• Caregiver of individual with confirmed Phelan-Dermid syndrome aged 2 to 30 years
• Caregiver can complete the web-based surveys in English
• Caregiver is able and willing to provide evidence of milestone attainment

Link to webinar recording in the comments.

Today, on Memorial Day, we pause to honor and remember the brave service members who gave their lives in service to our ...
05/25/2026

Today, on Memorial Day, we pause to honor and remember the brave service members who gave their lives in service to our country. We are deeply grateful for their sacrifice, courage, and dedication.

We also hold in our hearts the families, loved ones, and communities who carry their memory forward each day. đź’š

📅 Conference Agenda Now Available!We’re excited to share the preliminary agenda for the 2026 PMSF Family Conference! Thi...
05/22/2026

đź“… Conference Agenda Now Available!

We’re excited to share the preliminary agenda for the 2026 PMSF Family Conference! This year’s sessions are organized around our three conference tracks — CONNECT, CARE, and CURE — inspired by our theme, The Climb We Make Together.

From research updates and clinical education sessions to support groups, sibling programming, and community events, there’s something meaningful for every member of our community. Whether this is your first conference or your fifth, we hope the schedule helps you start planning an inspiring, connection-filled experience in Colorado. 🏔️

Please note: additional sessions and details will continue to be added, and the agenda remains subject to change. Support groups, meet-ups, and one-on-ones have not yet been added to the schedule.

👉 View the conference agenda at the link in the comments.

🔬New blog on neuroinflammation research in mice! 🧠New exciting pre-clinical research from Yale University suggests that ...
05/21/2026

🔬New blog on neuroinflammation research in mice!

🧠New exciting pre-clinical research from Yale University suggests that neuroinflammation may play a role in behavioral changes linked to Phelan-McDermid syndrome. In a mouse model of Phelan-McDermid syndrome, researchers found increased vulnerability to brain inflammation, leading to motor difficulties, anxiety-like behaviors, and repetitive behaviors. Treatment with mefenamic acid (a type of NSAID) improved inflammation-related motor issues in Shank3 mice, providing key evidence of the potential role of inflammation in Phelan-McDermid syndrome.

This work was co-funded by Phelan-McDermid Syndrome Foundation, CureSHANK, and the Autism Science Foundation.

🏔️Stay tuned! Dr. Sheng-Nan Qiao will be presenting more on her work at the 2026 PMSF Family Conference!

Links to the blog post and publication in the comments!

đź“ŁInformational Webinar for Phase 3 Clinical Trial for DEEs! Lundbeck is hosting a 1-hour, virtual webinar for families a...
05/20/2026

đź“ŁInformational Webinar for Phase 3 Clinical Trial for DEEs!

Lundbeck is hosting a 1-hour, virtual webinar for families and caregivers navigating severe and rare developmental epilepsies—often referred to as Developmental and Epileptic Encephalopathy (DEE).

This session will provide information about DEE and Lundbeck’s ongoing clinical research efforts in this space, including:
🟢 An overview of DEEs
🟢 Overview of ongoing, actively enrolling Phase 3 clinical studies
🟢 Responses to FAQs

D.E.E.P. D.I.V.E.: DEE Progress, Data, Insights, Vision, Education Virtual Webinar 1
đź“… Date: Monday, June 1st, 2026
🕣 Time: 8:30 PM ET – 9:30 PM ET
Registration link in the comments.

For more information about this event, please reach out to [email protected].

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