September 6th, 2013 by Rachel | Tags: Ashkenazi Jewish, PCDH15, Retinitis Pigmentosa, Type 1F, Usher Syndrome, Usher Syndrome Type 1F | 1 Comment »
My family and I are looking for people who have Usher Syndrome Type 1F and families who have a family member with Usher Syndrome Type 1F to help us with a very important initiative. Type 1F is a specific type of Usher Syndrome genetic mutation that exists only in Ashkenazi Jews. If you or your family member has Usher Syndrome Type 1F, we would love to get in touch with you about pushing for funding to include Type 1F in the next round of clinical trials for gene replacement therapy and other treatments for retinitis pigmentosa.
If you have Usher Syndrome, but you do not know your genetic mutation, please do contact me for more information about genetic testing. If you are an Ashkenazi Jew, were born profoundly deaf and have retinitis pigmentosa, the chances of having the Type 1F mutation is very high.
Professionals, if you know someone with Usher Syndrome Type 1F or who might have it, please share my contact info and have the recipient contact me.
Contact info: firstname.lastname@example.org
Note: My family and I are very well aware of the Coalition for Usher Syndrome Research.