TSAPO's Prevention Initiatives
TSAPO is working on two prevention initiatives. The first is collecting carrier and mutation information in order to determine if there are additional high-risk groups and to preserve mutation information for a mutation registry. The second is surveying carriers of Infantile Tay-Sachs to determine if we share any physical characteristics that can be used to screen the general population when deciding who to test for Tay-Sachs instead of relying solely on ethnicity.
TSAPO hopes to develop or collaborate on a mutation registry for Tay-Sachs mutations. It's important to stay aware of what mutations are currently affecting our children and see if there are any commonalities or differences that might have significance to our prevention programs. We are collecting mutation information from carriers who have either learned that they are carriers because they have an affected child or because they were contacted as part of our Genealogical Carrier Testing program. We are also collecting carrier status even if you do not know your mutation in order to determine if there are additional high-risk groups and to further our Genealogical Carrier Testing program.
TSAPO would like to identify physical characteristics that carriers of infantile Tay-Sachs share with each other and with their affected children. If we can identify a unique combination of physical characteristics, it might be possible to recommend carrier testing to people in the general population who have these characteristics rather than relying on ethnicity alone. Please sign up if you would like to take our survey and if you are a carrier of an Infantile Tay-Sachs mutation, even if you do not have an affected child. If we have success with Infantile Tay-Sachs, we will expand our program to related diseases.