• Kimberling, William J (PI)

    Project: Research project

    Project Details


    Usher Syndrome is a disorder characterized by congenital hearing loss with
    progressive retinitis pigmentosa. It is inherited as an autosomal
    recessive. Clinical variation between families has led investigators to
    hypothesize the existence of different subtypes which may reflect on
    underlying genetic heterogeneity. We are proposing a genetic study whose
    main objective is to localize the gene which causes Type I Usher Syndrome.
    Usher Syndrome Type I (profound deafness, vestibular dysfunction, and
    retinitis pigmentosa) is the most common type of Usher Syndrome, comprising
    between 60 and 90% of all cases. At least 100 families, each with two or
    more affected siblings, are to be collected. Approximately 50 families
    will come to BTNRH for in-depth clinical studies. An additional 50
    families will be seen in Sweden of which about 30 were in Hallgren's
    original study published in 1959. Lymphocytes from all informative
    families will be immortalized by transformation and made freely available
    to other investigators. In depth clinical evaluations which will be done
    both in the USA and Sweden will include complete vestibular, audiological,
    ophthalmologic and genetic studies. Families will be studied for linkage
    using a large battery of classical and DNA polymorphisms. A method of
    interval mapping will be used to maximize the likelihood of finding linkage
    and to improve the chance of finding heterogeneity if it exists. Since Usher Syndrome results in the loss of the two most vital human
    senses, the burden to patients with this disorder is tremendous. It acts
    to isolate them from the rest of society and reduces their ability to act
    independently. About 1 out of 20,000 individuals is affected with Usher
    Syndrome. However, as many as 5% of all congenitally deaf are affected.
    Thus, Usher Syndrome is one of the major problems facing researchers in
    deafness. Answers to questions regarding the etiology of Usher Syndrome
    will have important implications in the field of communicative disorders
    and better understanding of its underlying etiology may lead to more
    effective genetic counseling and treatment.
    Effective start/end date9/15/9011/30/99


    • National Institutes of Health: $258,385.00
    • National Institutes of Health: $310,078.00
    • National Institutes of Health: $328,314.00
    • National Institutes of Health: $279,941.00


    • Medicine(all)
    • Neuroscience(all)


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