RAO Network

Usher 1F Collaborative

The Root family, Rachel (far left), Emily (left), Jared (right), and Zachary (far right), pose for a photo at a cycling event
The Root family of New Jersey, Rachel, Emily, Jared, and Zachary, who has Usher 1F, at a Sight.Sound.Cycle fundraising event for Usher 1F research. Multi-city Sight.Sound.Cycle events, founded by the Roots, raised $300,000 for Usher 1F research over three years. Photo courtesy of Usher 1F Collaborative.

Finding strength in numbers

A cure requires patients, researchers, and clinicians. It takes a dedicated group of affected families to join together to raise awareness and funding for a rare disease. Together, they can interest, inspire, and fund researchers to work toward a shared goal.

This is exactly what Melissa Chaikof and her husband Elliot knew they had to do after their two daughters were diagnosed with Usher Syndrome Type 1F. After attending Usher Syndrome conferences for several years, they learned that there was significant research for other types of Usher Syndrome yet there was no research for Usher 1F. In response, the duo launched Usher 1F Collaborative, with a group of other affected families soon joining them in their effort for a cure.

Usher Syndrome is the leading cause of inherited deafblindness. Type 1 is the most severe, with type 1F referring to the specific genotype. The most prevalent 1F mutation affects those of Ashkenazi Jewish descent. Children with Usher 1F are born profoundly deaf with an absent vestibular system (a sensory system that’s responsible for providing the brain with information about motion), which causes poor balance and low muscle tone, resulting in late gross motor milestones. There’s no cure for the progressive blindness of Usher 1F.

Usher 1F Collaborative hopes to use this opportunity to bring together researchers already working on a cure for Usher 1F and other researchers working in the fields of gene and stem cell therapies to share and learn from one another and to foster new collaborations. Additionally, in order to prepare for a future clinical trial, Usher 1F Collaborative would like to launch a natural history study. These initiatives will help move the research forward and speed up the pace of the research for those who are desperate for a cure.

It takes a dedicated group of affected families to join together to raise awareness and funding for a rare disease.

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