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Phelan-McDermid Syndrome Foundation

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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.

10/24/2025

We hope you will join us for our October session, “Promoting Overall Health in Phelan-McDermid Syndrome”, which is coming up on Tuesday, October 28th at 1pm ET.

Learn tips to keep your child or adult healthy as well as strategies to help mitigate some of our population’s high-risk areas. We will look through PMSF’s related resources together, such as our medical advisories and clinical consensus guidelines.

Register for this month’s webinar and explore our 2025 Pathways Archives using the link in the comments.

10/23/2025

💚 Thank you for shining green and sharing your story on Phelan-McDermid Syndrome Awareness Day!

From family posts and photos to stories of strength and hope, your voices made a difference. Together, we showed the world what community looks like when every story shines green. 🌍✨

Awareness creates understanding. Understanding drives progress. And progress brings us closer to better treatments and care for everyone living with Phelan-McDermid syndrome.

We’re so grateful to everyone who joined in, whether you shared your story, changed your profile frame, or supported from afar. 💚

10/22/2025

How you can help today:

💚 Share your story
🧠 Support research
🧬 Advocate for early genetic testing

Together, we can make a difference for people living with Phelan-McDermid syndrome.

10/22/2025

On Phelan-McDermid syndrome Awareness Day, we're excited to share a few updates from Jaguar Gene Therapy:

✅ The first-in-human trial of JAG201 is on track and 3 children have now been safely dosed, with no treatment-related concerns so far.

🧠 Recruitment for the natural history study for patients 12-36 months is still ongoing at Mount Sinai, Rush University, and Boston Children’s Hospital.

🧬 Jaguar has announced a SHANK3 Genetic Testing Program in partnership with GeneDx, set to launch by the end of this year.

Read the latest statement and FAQ from Jaguar in the comments!

10/22/2025

Today is Phelan-McDermid Syndrome Awareness Day! 💚

Our strength is found in our stories. By shining green and sharing, we’re making our voices heard around the world. 🌍✨

Share your story and tag PMSF and CureSHANK so we can celebrate together.

10/21/2025

As we approach Phelan-McDermid Syndrome Awareness Day tomorrow, October 22, we’re encouraged by yesterday's announcement from Neuren Pharmaceuticals that the FDA has granted Fast Track designation for NNZ-2591 in Phelan-McDermid syndrome.

Fast Track status helps speed up the development and review of treatments for serious conditions with unmet medical needs. Neuren is preparing to launch the first-ever Phase 3 clinical trial for Phelan-McDermid syndrome, known as the “Koala” study, which will evaluate NNZ-2591 in children ages 3 to 12.

This week, our Science & Research Administrator, Meagan Hutchinson, met up with the Neuren team at NORD to connect and view their latest research posters, a great opportunity to stay informed and strengthen relationships across the rare disease research community. 💚

This fast-track status recognition underscores the urgent need for approved treatments and the continued progress toward therapies for our community.

Read the full press release in the comments.

10/21/2025

Tomorrow is the day 💚

Hope is powerful. Together, we can raise awareness, fund research, and build a brighter future for everyone with Phelan-McDermid syndrome.

How will you be part of PMSAD?

We can’t wait to see your stories and how you’re raising awareness. Be sure to tag PMSF and CureSHANK

10/20/2025

Phelan-McDermid syndrome affects entire families and communities. Awareness amplifies voices, builds support, and drives change. 💚

Who will you share your story with this week?

Don’t forget to tag PMSF and CureSHANK when sharing your story.

10/19/2025

Just 3 days to go until Phelan-McDermid Syndrome Awareness Day!

Phelan-McDermid syndrome affects an estimated 1 in 10,000–15,000 individuals worldwide, but many remain undiagnosed. Increased access to genetic testing can change that.

How did testing impact your journey?

Be sure to tag PMSF and CureSHANK

10/18/2025

Phelan-McDermid syndrome is a complex neurodevelopmental disorder. Some symptoms appear in early childhood, while others emerge later in life.

What do you wish more people understood about Phelan-McDermid syndrome?

Be sure to tag PMSF and CureSHANK

10/17/2025

🧠 Exciting Drugs in Development Updates from PYC!

PYC-002 is an RNA therapeutic approach that has been found to be well-tolerated and safe in rats and monkeys. PYC-002 also has a broad distribution throughout the brain in the animals. PYC expects to progress its investigational drug candidate for Phelan-McDermid syndrome into clinical trials in 2026.

Address

8 Sorrento Drive
Osprey, FL
34229

Opening Hours

Monday	9am - 5pm
Tuesday	9am - 5pm
Wednesday	9am - 5pm
Thursday	9am - 5pm
Friday	9am - 5pm
Saturday	9am - 5pm
Sunday	9am - 5pm

Website

http://www.pmsf.org/

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