Research award news!

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 the Orphan Disease Center 2025 Million Dollar Bike Ride campaign.

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.