Phelan-McDermid Syndrome Foundation

09/03/2026

📊 “Every single data point is important.”

🎙️ In our latest podcast episode, Dr. Lauren sits down with two members of the Jaguar Gene Therapy team to talk more about their current Developmental Milestone Survey study. This study is doing a deep dive into if and when specific language, motor, and self-help skills were gained, lost, and regained in individuals with Phelan-McDermid syndrome.

You will learn important information about:
✅ Why the study is being done (and how a similar study was done in Rett syndrome)
✅ How the study relates to the JAG201 gene therapy clinical trial
✅ Who is eligible to participate
✅ Next steps to participate

Thank you Dan Gallo (Executive VP, Head of Clinical Development and Medical Affairs at Jaguar Gene Therapy) and Tessa Clarkson (Clinical Development Consultant; Co-Founder and CEO of Psychlomere) for joining as guests!

Tune into this episode on Spotify, YouTube, or wherever you get your podcasts!

Links to the podcast and study information in the comments below.

09/02/2026

📣New publication on genotype-phenotype relationships in Phelan-McDermid syndrome

🧬Researchers at the University of Modena and Reggio Emilia in Italy explored whether chromosome 22 deletion size relate to clinical features in Phelan-McDermid syndrome.

📊 In their study of 63 people with Phelan-McDermid syndrome, researchers found that larger chromosome 22 deletions were associated with several differences in the symptoms of Phelan-McDermid syndrome.

Some of the differences they found include:
💬expressive language
🚶gait and muscle strength
🧠structural changes in the brain seen on MRI

💡Understanding how deletion size and individual genes contribute to Phelan-McDermid syndrome could ultimately help researchers better understand why symptoms vary so widely between individuals—and may help improve personalized care and treatment in the future.

Check out our blog post about the study to learn more.

Link to the blog post and research article in the comments.

08/29/2026

Another great webinar opportunity from DEE-P Connections!

Communication is so much more than words. 💜

A glance. A gesture. A sound. A smile. A moment of connection.

Join DEEP and Rare Birds Foundation for Listening Out Loud: Communicating with Joy, a free webinar about how we can recognize, respond to, and celebrate the many ways children with complex communication needs express themselves.

We’ll explore how communication science and the joy of improvisation can help us think differently about what it means to truly listen.

We’ll also hear directly from parent voices during a caregiver panel, bringing lived experience into the conversation and sharing what communication and connection look like in everyday life.

📅 September 10
⏰ 2 PM ET

Caregivers, therapists, educators, healthcare professionals, and anyone supporting children with complex communication needs are invited to join us!

Register Here: https://deepconnections.net/event/listening-out-loud/

08/28/2026

Interested in becoming a PMSF Regional REP? 💚

Join us for an informal information session on Thursday, September 17 at 1pm ET to learn more about the U.S. Regional REP Program and what it means to serve as a volunteer REP in your state or region.

REP stands for Resources, Engagement, and Peer Support. Regional REPs help families connect with one another, access PMSF resources and support, and stay connected to the broader Phelan-McDermid syndrome community.

Whether you’re curious or considering applying, come learn more, ask questions, and see if the REP Program might be a good fit for you!

Please use the link in the comments to register.

08/27/2026

🏥 Important reminder to our community

Our Medical Advisory Committee, chaired by Dr. Alex Kolevzon, periodically issues Medical Advisories with guidance on important treatment considerations for individuals with Phelan-McDermid syndrome. We recommend becoming familiar with the Medical Advisories and sharing them with your care team as needed.

Link in comments.

08/26/2026

⏰ Jaguar Gene Therapy is seeking a small number of caregivers to participate in an at-home pilot study to help develop clinical trial assessments specific to Phelan-McDermid syndrome. By sharing your experiences and insights, you can help ensure the caregiver perspective is considered as these tools are developed and contribute to the advancement of JAG201.

Space is limited and Jaguar is looking to fill spots within the next week.

If you are interested or have questions, please reach out to [email protected].

08/21/2026

The conference may be over, but "The Climb We Make Together" continues.

Join us for the "Finding Your Way" Conference Family Reunion, a virtual gathering where attendees can reconnect, reflect, and continue the journey together.

While everyone who attended the conference is welcome, this reunion is especially designed for first-time attendees and families who are newly diagnosed. It's an opportunity to ask questions that have come up since returning home, reconnect with the families and staff you met at the conference, and continue building the relationships that began there.

We'll also share ways to stay connected with PMSF throughout the year, highlight programs and resources that can support your family, and help you take the next steps on your journey. We hope you'll join us as we continue climbing together.

The registration link is in the comments.

08/20/2026

🌐New remote study open to the international Phelan-McDermid syndrome community!

Researchers at the Cerebra Network are recruiting families for the ‘BEOND’ survey!

BEOND is open to parents/carers of children and adults diagnosed with Phelan-McDermid syndrome. Families from all countries can take part. The survey takes about 60 minutes to complete and can be done online or via mail.

Every family that takes part will receive a personalised feedback report which summarises their survey answers, putting the information back into their hands.
The survey will run for the next 20 years. Families are welcome to take part every couple of years to see how their answers have changed with time. By collecting over many years, we hope to better understand development in Phelan-McDermid syndrome.

Eligibility:
✅ Primary caregiver of individuals with Phelan-McDermid syndrome
✅ Individual with Phelan-McDermid syndrome must be 1 years old or older (no upper age limit!)
✅ English proficiency required, but open to all countries!

To learn more information or sign up for the study, check out the links in the comments!

08/20/2026

Phelan-McDermid syndrome families - this is a great opportunity to learn more about the Parents Speak Survey 2 which will open recruitment soon! This is out of the Inchstone Project, and our community was involved in the original Parents Speak Survey!

08/19/2026

Every gift to PMSF tells a story, and a gift in your will can make a real difference for years to come.

A will isn’t just paperwork. It’s one of the most powerful ways to support the causes you care about, long after you’ve made the decision.

August is Make a Will Month, and we’re encouraging our community to think about the legacy they want to leave. If you’ve been meaning to write or update your will, August is the perfect nudge to get started. Contact [email protected] with questions.