Usher Syndrome (cont.)
What research is being conducted on Usher syndrome?
Researchers are currently trying to identify all of the genes that cause
Usher syndrome and determine the function of those genes. This research will
lead to improved genetic counseling and early diagnosis, and may eventually
expand treatment options.
Scientists also are developing mouse models that have the same
characteristics as the human types of Usher syndrome. Mouse models will make it
easier to determine the function of the genes involved in Usher syndrome. Other
areas of study include the early identification of children with Usher syndrome,
treatment strategies such as the use of cochlear implants for hearing loss, and
intervention strategies to help slow or stop the progression of RP.
What are some of the latest research findings?
NIDCD researchers, along with collaborators from
universities in New York and Israel, pinpointed a mutation, named R245X, of the
PCDH15 gene that accounts for a large percentage of type 1 Usher syndrome in
today's Ashkenazi Jewish population. (The term "Ashkenazi" describes Jewish
people who originate from Eastern Europe.) Based on this finding, the
researchers conclude that Ashkenazi Jewish infants with bilateral, profound hearing loss who lack another known
mutation that causes hearing loss should be screened for the R245X mutation.
SOURCE: National Institute on Deafness and Other
Communication Disorders, National Institutes of Health
Last Editorial Review: 10/31/2008
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