Research Questionnaire
Are you caring for a person with a positive
genetic test for Rett syndrome?
Researchers in the UK are working together to
look at the effects of different genetic changes (mutations) on the way that
people are affected by Rett syndrome. They are interested in looking at how
much of the normal gene and how much of the altered gene each person is
using. They would like to know whether or not this affects how mildly or
severely a person might be affected by Rett. In order to do this they need
as many families as possible to take part.
The research would involve completing a health
questionnaire for the affected person with Rett syndrome. Most people with
Rett syndrome will not need to provide an additional blood sample. However
they would need a blood sample from ideally both biological parents,
although they can often manage if just one parent has a blood test. The
information from the further blood tests will be combined with health
information to look further in to the effects of a gene change on how a
person is affected by Rett syndrome.
If you would like to know more or would like to
take part then please contact Dr Hayley Archer, at Cardiff University, on
029 20744673.
