The UGDH Foundation

10/08/2026

Happening in just a few minutes!

Starting a seizure medication is often just the beginning. 💊

How do you know if a medication is really working? What happens when side effects become too much? When is it time to adjust a dose, add another medication, switch treatments, or begin weaning?

Join us for Part II of A Caregiver’s Guide to Seizure Medications, featuring Heather Nichols, PharmD, Pediatric Neurology Pharmacist at Children’s Hospital Colorado, alongside caregiver voices sharing their lived experiences.

Together, we’ll explore:
💜 How clinicians evaluate whether a medication is working
💜 Side effects and medication level monitoring
💜 Treatment failures and “honeymoon periods”
💜 Medication resistance
💜 Adding, switching, and safely weaning medications
💜 Balancing seizure management with quality of life

Whether your family is trying a new medication or has been navigating seizure medications for years, this conversation is designed to help you better understand the process and feel more prepared to participate in treatment decisions.

🔗 Register today: https://tinyurl.com/Part2SeizureMeds

08/21/2026

Tremendous need? Yes. Tremendous opportunity? Yes! It's an extraordinary era for rare disease and is not being left out. We have advocates, energy, and opportunity.

07/25/2026

Sneak peak into the Strength, Sweat, Support Fundraiser last weekend at SETS-Langhorne! It was a great morning of exercise, raffles and friends!

07/07/2026

📣New videos!

"The diagnosis is just the end of one journey, but then the beginning of the next."

Dr. Jamuar opened the 2026 UGDH Family & Scientific Meeting with these words, reminding us that a diagnosis, as hard as it can be, can also bring hope: hope that now the disease is known, WE can drive real change to improve the lives of our loved ones.

At the UGDH Meeting we heard from world class clinicians and scientists as well as dedicated family and friends of patients with Jamuar syndrome. And you can still join that conversation! Videos from the conference are now on The UGDH Foundation channel at YouTube - and more are on the way! Subscribe there to keep up with video releases. 🙌 🙌

05/20/2026

IT STARTS TOMORROW. Join us for the first ever UGDH Family & Scientific Meeting! Hear from world-class experts and participate in the conversation. More details and to register for the Zoom conference: https://www.facebook.com/share/1GM8ZRodkx/

05/19/2026

It's THIS WEEK! Join us for the first ever global online UGDH Family & Scientific Meeting! Live translated captions will be available in 15 languages. Don't forget to register: https://www.facebook.com/share/1GM8ZRodkx/

05/04/2026

REGISTRATION IS LIVE! Join us for the first global online UGDH Family & Scientific Meeting!

Parents of loved ones with Jamuar syndrome, this is event is especially for you! Live translated captions will be available in 15 languages. Can't attend live? Register anyway for faster access to recordings.

World class clinicians and scientists as well as dedicated family and friends of patients with Jamuar syndrome will converge for presentations on

• clinical features and genetics of Jamuar syndrome/UGDH-related disorder
• relevant therapeutic approaches
• state of natural history collection
• updates from recent research

and more! Link in comments.

04/09/2026

The UGDH Foundation has awarded a $40,000 research grant to fund the first knock-in mouse model of Jamuar syndrome! Dr. Gaia Colasante of the University Vita-Salute San Raffaele-Milan, Italy, in collaboration with Dr. Emanuela Bottani of the University of Verona, will direct this project, known as “Generation and characterization of a knock-in model of Jamuar syndrome.”

Dr. Colasante has already successfully developed a mouse model for Dravet syndrome, another profound form of epilepsy. Dr. Bottani comes to this work having deeply explored Jamuar syndrome for two previous projects funded by the Telethon Foundation and Ugdh Italia - Il Sorriso di Aurora. The UGDH Foundation was able to offer this grant thanks to the smashing success of our campaign with the 2025 The Million Dollar Bike Ride for Orphan Disease Research.

Animal models are critical for studying the pathomechanisms of disease and observing the systemic effects of potential treatments prior to their being tested in humans. So far, no animal model has successfully mimicked Jamuar syndrome as seen in children. Existing models either do not survive or do not allow researchers to study the disease over time.

This project aims to create the first mouse model that carries a genetic mutation found in children with a severe form of Jamuar syndrome. By developing this new model, researchers will be able to follow how the condition develops, study brain structure and functions, monitor seizure development, and assess learning, movement, and behavior.

This research is a major step toward the future testing of new therapies, which is the core mission of The UGDH Foundation. Jamuar syndrome is a devastating neurological condition caused by mutations in the gene known as UGDH. Affected children often experience severe seizures that are difficult to control, profound developmental delay, low muscle tone, and progressive changes in brain structure. No effective treatment currently exists. The need is urgent.