Foundation for USP7-Related Diseases

Foundation for USP7-Related Diseases Providing a future of possibilities for those diagnosed with Hao-Fountain Syndrome (mutation/deletion of USP7). Federal tax ID 82-1697564. www.usp7.org

Address: 11 Innkeepers Ln, Falmouth, ME 04105

Visit our website for more information. www.usp7.org

https://linktr.ee/haofountainsyndrome Welcome to the Foundation for USP7-Related Diseases! We are a non-profit organization dedicated to those who are affected by a mutation of the USP7 gene. A mutation of USP7 causes a neurodevelopmental disorder. Those affected are often developmentally delayed,

have white matter abnormalities, speech impairment and are diagnosed with Autism Spectrum Disorder. Foundation for USP7-Related Diseases is exempt from federal income tax under IRC Section 501(c)(3).

One of the most powerful tools in rare disease research is a patient registry. Our foundation works to identify and regi...
06/13/2026

One of the most powerful tools in rare disease research is a patient registry. Our foundation works to identify and register every person with Hao-Fountain Syndrome worldwide. More patients = better research = faster answers. Help fund our registry at usp7.org/donate 💙

If you're a Hao-Fountain family, have you joined the registry? If not, join here: usp7x.acrossmatrix.com/ #/user-request

🔬 RESEARCH UPDATE: A 2024 study published in Clinical Genetics expanded our understanding of Hao-Fountain Syndrome by st...
06/11/2026

🔬 RESEARCH UPDATE: A 2024 study published in Clinical Genetics expanded our understanding of Hao-Fountain Syndrome by studying 32 new patients. Researchers discovered additional features, including hyperphagia and increased body weight in some individuals. Every new study brings us closer to a treatment. Read more at onlinelibrary.wiley.com/doi/full/10.1111/cge.14480

Have you read the paper? Let us know in the comments.

06/10/2026

🚨 BIG RESEARCH UPDATE & STREAMLINED SIGN-UP STEPS FOR HAO-FOUNTAIN FAMILIES! 🚨

Want to directly kickstart a brand-new study for Hao-Fountain syndrome?

The Foundation is working to launch a USP7 Proteomics Study, and we need patient blood and plasma samples to get it off the ground! 🧬 COMBINEDBrain is bringing a professional biorepository collection team on the road this summer, making it easier than ever for our families to contribute.

By booking a slot, your child's sample will pull double duty: it will provide the baseline data needed for our upcoming proteomics research and help make us "trial-ready" for future pharma partnerships.

If you live anywhere near these upcoming June stops, let's get you on the schedule:
📍 Denver, CO – June 13–14 (This weekend!)
📍 Orlando, FL – June 17–20
📍 Concord, NC – June 25–26 (Asheville families, Concord is your closest hub!)
📍 Ann Arbor, MI – June 26–27
📍 Boston, MA – June 27–28

⚠️ SIGN-UP STEPS:

1️⃣ REGISTER FOR MATRIX: If you aren't already registered on our data portal, go to usp7x.acrossmatrix.com/en-US/ #/user-request to sign up. This ensures your medical history matches your sample!
2️⃣ GET A CRID: Go to thecrid.org/ and generate a secure Clinical Research ID for your child. It takes less than 5 minutes and safely anonymizes their research data.
3️⃣ EMAIL US: Send an email to [email protected] AND [email protected] with your child's name, their CRID, and your preferred city/date. We will reach out to COMBINEDBrain to secure your spot!

The environment is completely sensory-friendly and tailored specifically for our kids. Let's flood these roadshows with USP7 families and get this proteomics study moving! 💙

The USP7 gene plays a crucial role in regulating proteins in our cells — including ones that control brain development. ...
06/09/2026

The USP7 gene plays a crucial role in regulating proteins in our cells — including ones that control brain development. When this gene mutates or is deleted, it can disrupt critical processes in a child's development. This is at the heart of Hao-Fountain syndrome. 🧬 Learn more: usp7.org

To every family navigating a Hao-Fountain Syndrome diagnosis: You are not alone. Our foundation connects families across...
06/07/2026

To every family navigating a Hao-Fountain Syndrome diagnosis: You are not alone. Our foundation connects families across the globe, sharing resources, stories, and support. Find ways to join our community at usp7.org/family-resources and find your people. 💙

There is currently no cure for Hao-Fountain syndrome — but YOUR support is changing that. Every dollar donated to the Fo...
06/05/2026

There is currently no cure for Hao-Fountain syndrome — but YOUR support is changing that. Every dollar donated to the Foundation for Hao-Fountain Syndrome goes directly toward funding research and connecting families worldwide. Help us find answers. Donate today at usp7.org/donate 💙

Children with Hao-Fountain syndrome may experience: delayed speech, intellectual disability, behavioral differences (inc...
06/03/2026

Children with Hao-Fountain syndrome may experience: delayed speech, intellectual disability, behavioral differences (including autism traits), low muscle tone, feeding challenges, and more. No two children are exactly alike. The severity varies widely. Early intervention can make a world of difference. Visit our website at usp7.org for a full list of possible symptoms.💙

06/02/2026

🧬 Your Genetic Report Could Change Everything.🧬

Hao-Fountain Syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by variants in the USP7 gene, and right now, researchers around the world are working to understand it more deeply. But they need your help to do it.

The Matrix Registry is our community-powered research tool, and we are calling on every family, caregiver, and individual affected by HAFOUS to take two important steps:

🔹 Register in the Matrix Registry
🔹 Upload your genetic report

Here's why your genetic report is critical:

Hao-Fountain Syndrome presents differently in every individual — from developmental delays and speech challenges to behavioral differences and seizures. The only way researchers can identify patterns, improve genetic counseling, and develop future treatments is by studying the specific USP7 variants across a large, diverse group of patients. More data = more answers.

Whether your loved one has a point mutation or a chromosomal deletion, that information matters. Studies like the landmark 2024 research out of the University of Heidelberg were only possible because families chose to share their genetic data. Your report could be the piece that unlocks the next discovery.

Registering is safe, confidential, and takes just minutes.

👉 https://usp7x.acrossmatrix.com/ #/user-request

Share this post. Tag a HAFOUS family. Help us build the most comprehensive Hao-Fountain dataset in the world, because our kids deserve answers. 💙

Did you know there's a rare genetic disorder called Hao-Fountain syndrome (HAFOUS)? Caused by mutations in the USP7 gene...
06/01/2026

Did you know there's a rare genetic disorder called Hao-Fountain syndrome (HAFOUS)? Caused by mutations in the USP7 gene on chromosome 16, it affects brain development and can impact speech, learning, and behavior. Most cases are de novo, meaning it's not inherited from parents. Learn more at usp7.org.

Every amount matters. Every month counts.Here's what your recurring gift does for families affected by Hao-Fountain Synd...
05/17/2026

Every amount matters. Every month counts.

Here's what your recurring gift does for families affected by Hao-Fountain Syndrome:

💚 $15/mo — sustains registry participation
💙 $25/mo — funds data collection & family engagement
🧡 $50/mo — advances research readiness
⭐ $100/mo — drives a critical research milestone

The Hope Circle is how we keep the lights on for rare disease science — steady, sustained, and powerful.

Join us: usp7.salsalabs.org/HaoFountainHopeCircle

Address

11 Innkeepers Lane
Falmouth, ME
04105

Opening Hours

Monday 8am - 5pm
Tuesday 8am - 5pm
Wednesday 8am - 5pm
Thursday 8am - 5pm
Friday 8am - 5pm

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