Hello, I am Anna Khutoryan. I am living with Usher Syndrome Type 1F. I would like to share some information about Usher Syndrome Type 1F, because we truly need your help to find a cure.
Usher Syndrome is the most common condition affecting both hearing and vision. There are several types of diseases or disorders that can affect hearing and vision, but I’ll focus on Usher Syndrome Type 1F. This is very common among people who are Ashkenazi Jewish, whose ancestors came from Central and Eastern Europe, such as Russia, Ukraine, Germany, Holland and Poland. Approximately 2% carry the genetic mutation for this disease. People with Usher 1F are born deaf and have poor balance. Their vision starts deteriorating usually during their childhood as a result of retinitis pigmentosa (RP), and they have poor night vision and then gradually narrowing tunnel vision until they are completely blind during adulthood.
Currently, the most promising research is gene therapy. With Usher Syndrome, there is a mutation in the affected gene, but for each Usher Syndrome type, a different gene is. With gene therapy, either the entire affected gene is replaced, or the mutation is replaced or skipped.
Right now we have two researchers working on a cure for Usher 1F, Dr. Edwin Stone from the University of Iowa and Dr. Monte Westerfield from the University of Oregon. However, they need more funding to continue their work. As mentioned, there are many variations, and another more common type of Usher is 1B, which has much more funds and even a clinical trial. My type, 1F, has almost no funding for research, so a group of us established Usher 1F Collaborative, emphasizing the group approach. That is where you can help. It will take a group effort to help find a cure, and we welcome any and all help you can give.
For those who have Usher Syndrome and are Ashkenazi Jews, I highly recommend that you take a blood test to confirm that it is Usher 1F. The more people we identify as Usher 1F, the more likely we are to have enough patients for a clinical trial in the pursuit of a cure.
If you are interested in learning more about Usher 1F or donating to support research, please visit www.usher1f.org.
Also please visit and like our Facebook page at www.facebook.com/usher1f.
Saving our vision is a race against time. Please join us in investing in making this happen. Thank you.