There are 3 types of Usher syndrome, differentiated by the age of onset and severity of symptoms. In the past, most cases of Usher syndrome were diagnosed based on a clinical diagnosis, but genotyping is the only way to know definitively whether someone has Usher syndrome. Cindy herself was misdiagnosed with Usher II as a child, and was only correctly diagnosed with Usher III after getting genotyped as an adult.

It is estimated that more than 400,000 people worldwide have Usher syndrome, with types I and II being most common. Only 2 percent of the patient population has Usher III, with the largest frequency of the disease occurring in Finnish and Ashkenazi Jewish populations.

The Initiative’s efforts have resulted in great advancements in Usher III research. Most promising has been the Initiative’s drug discovery program and the development of BF844, a new small molecule compound.

The Initiative is currently funding pre-clinical development of BF844. It is a costly process, but critical to demonstrating that this drug treatment is safe for human clinical trials, which we hope to commence within the next one to two years.