Usher Syndrome Data Collection

If you have Usher 1F, help advance research with data collection.

Usher 1F Collaborative has partnered with the Usher Syndrome Coalition and the Usher Syndrome Society on an Usher syndrome registry through the RareX patient registry platform. 

When you participate in data collection, sometimes called a disease or patient registry, you’ll help accelerate research and the development of new treatments.

Data collection is a crucial step in treatment development.

To share your data, please visit the Data Collection portal.

For more information from the Usher Syndrome Coalition, please click here.

Getting to Know Your Genes

Estie Rose, Genetic Counselor, JScreen

Usher syndrome type 1F is one of many recessive genetic diseases, that is those that hide through generations until two parents both carrying the mutation have an affected child. With the tremendous advances in genetic testing over the past decade, couples can now get prescreened prior to having children. 

Estie Rose is a genetic counselor at JScreen. Usher 1F is one of over 200 recessive genetic diseases for which JScreen tests. In March, Usher 1F Collaborative was fortunate to host a virtual event with Estie Rose. Estie provided a refresher on Genetics 101, explaining how recessive genetic diseases, such as Usher 1F, can be carried through generations with no affected children until two carriers have a child together. While 80% of babies born with a heritable genetic disease are born to parents who have no known family history of that disease, about 75% of people who JScreen tests are carriers of at least one disease. Carriers are generally healthy people.

Many were surprised to learn how simple it is today to test to find carriers of so many recessive genetic diseases. Estie outlined the options young couples have if they learn they are both carriers of the same mutation. 

We also learned that several ethnic groups carry genetic diseases that are more common in their populations. For example, sickle cell disease is more common in African Americans, and cystic fibrosis is more common in Caucasians. Those of Ashkenazi Jewish descent, that is Jews whose ancestry is descended from eastern Europe, comprise another ethnic group with many recessive genetic diseases.  Included in the list of diseases for which JScreen tests are over 100 diseases, including Usher 1F, that have mutations more prevalent in those of Ashkenazi Jewish descent. Approximately 60% of those with Usher 1F share the same genetic mutation. 

If you are interested to learn more about reproductive genetic testing, please see Resources and Partnerships under About Us on our website, where you can watch Estie Rose’s presentation. In addition, please visit JScreen’s website to learn more about their work, including their cancer gene testing.

Watch Estie's informative talk to learn more about this important topic.