Foundation for USP7-Related Diseases

08/25/2026

⏰ The countdown is on! Our 2026 Hao-Fountain Syndrome Symposium and Family Conference is coming up October 8–9 in King of Prussia, PA! Make sure to register soon - the deadline to book rooms at our special pricing is September 7.

Whether you're joining us for the full symposium, Family Day, or both, this is your chance to connect with other families, hear from leading experts on Hao-Fountain Syndrome/USP7, and be part of a community that truly gets it. 💙

Don't wait to grab your spot — register today: https://usp7.salsalabs.org/2026conference

We can't wait to see you there!

We warmly invite you to the 2026 Hao-Fountain Syndrome Symposium and Family Conference, set to take place in Philadelphia, PA, on October 8-9, 2026. Our event remains dedicated to uniting families, researchers, and healthcare professionals in our shared pursuit of understanding and advancing the tre...

08/22/2026

Some children with Hao-Fountain Syndrome have abnormalities visible on brain MRI, including mild white matter changes. These findings help neurologists understand how the condition affects brain structure and function. Neuroimaging is one piece of the diagnostic puzzle. Learn more at usp7.org🧠

08/20/2026

Every step, every word, every breakthrough — they all count. We love hearing about the therapy wins families are celebrating! Speech therapy, physical therapy, occupational therapy — it all makes a difference. Share a recent win in the comments and let's celebrate together! 🎉💙

08/19/2026

🧬 New research on USP7 — the gene behind Hao-Fountain Syndrome!

We're excited to share a newly published study that gives us one of the most detailed pictures yet of how the USP7 protein works in our cells.

Researchers from Erasmus University Medical Center in Rotterdam (Wolf van der Meer, van der Knaap, and colleagues) used advanced mass spectrometry techniques to map out USP7's "partner proteins" — the many other proteins that USP7 interacts with and helps regulate throughout the cell.

Here's why this matters for our community:

🔬 The team identified a high-confidence list of proteins that USP7 directly controls, working across chromatin regulation, the Polycomb gene-silencing system, RNA processing, and DNA repair.

🔍 They found that USP7 doesn't treat every partner protein the same way — its effects are highly specific to each individual target, which helps explain why losing USP7 function (as happens in Hao-Fountain Syndrome) can affect so many different biological processes at once.

🧩 Perhaps most meaningfully, the researchers connected many of USP7's target proteins to their own distinct neurodevelopmental conditions. Their conclusion: Hao-Fountain Syndrome likely results from the combined effect of reduced function across this whole network of USP7-regulated proteins — not just one single downstream pathway.

This kind of foundational molecular work is exactly what helps pave the way toward future targeted therapies. The more precisely researchers understand what USP7 does and doesn't control, the better positioned we are for treatments down the road.

📄 The paper, "Proteome-wide Ubiquitinome Profiling Reveals Substrate-specific Dynamics Within the USP7 Network," was published in Molecular & Cellular Proteomics (2026) and is free to read — open access!

🔗 https://www.mcponline.org/article/S1535-9476(26)00098-8/fulltext

Thank you to these researchers for continuing to dig into the science that matters so much to our families. 💛

08/18/2026

💙 Because of donors like you, the Foundation for Hao-Fountain Syndrome has grown its patient registry, supported cutting-edge research, and connected hundreds of families around the world. Thank you for believing in a cure. There's still more to do — and we need you. Give at usp7.org/donate

08/16/2026

🔬 Researchers believe that USP7 interacts with the MAGEL2/TRIM27 pathway — a complex involved in protein regulation. Disruptions here may help explain some features of Hao-Fountain Syndrome. Unpacking these molecular pathways is how we eventually find treatments. Fund the science at usp7.org/donate

08/14/2026

Some males with Hao-Fountain Syndrome are affected by hypogonadism — a condition where the body doesn't produce enough s*x hormones. This is a variable feature that doesn't affect everyone. Understanding the full spectrum of the syndrome helps families prepare and seek appropriate care. You can learn more about the symptoms associated with Hao-Fountain Syndrome at usp7.org 🧬

08/13/2026

The 2026 Hao-Fountain Syndrome Symposium and Family Conference is fast approaching! 🗓️

Registration is free (with optional donations welcome to support our family conference costs), and the deadline to book our discounted $179/night hotel rate is September 7. Don't forget, Warrior Spotlight photo and bio submissions are also due by September 5!

Whether you're joining us for scientific breakthroughs, family connection, or both, we can't wait to see you in Pennsylvania.

Register now: https://usp7.org/2026-family-conference 💙✨

08/12/2026

Every last day of February is Rare Disease Day, but for the families living with Hao-Fountain Syndrome, awareness matters every day of the year. Help us spread the word by sharing this post and tagging someone who should know about USP7. Together, we make rare diseases less invisible. 💙

08/11/2026

Calling all researchers, clinicians, and medical professionals! 🩺🔬

Day 1 of the 2026 Hao-Fountain Syndrome Symposium (October 8) is dedicated entirely to deep dives into the latest scientific discoveries, data sharing, and clinical updates. Plus, join us that evening for a wonderful networking event designed for families and scientists to connect in a relaxed, informal setting.

Check out the details and register today: https://usp7.org/2026-family-conference 📊🤝