(From the Applicant?s Abstract): The goals of the application are to identify genes and mutations that cause inherited cataracts, and to develop a canine model to study the molecular aspects of inherited congenital cataracts in humans. Both a candidate gene approach and a genome-wide scan will be used. Cataracts are the leading cause of blindness worldwide. The most common cataracts occur in the elderly. However, the molecular etiology of these senile cataracts is not well understood. Congenital cataracts are less prevalent in the population yet approximately 1/3 of them are inherited. As a result, the study of congenital cataracts has contributed more to our understanding of the molecular bases of inherited cataracts. Genotypic and phenotypic heterogeneity make direct linkage studies and the identification of cataract genes problematic in man. As a results, animal models have been used to circumvent this problem. Although the mouse model has been used extensively, advances in canine genetics have produced the foundation on which to study inherited diseases in the canine model as a complementary species. For example, the development of the canine genetic, RH, and cytogenetic maps along with the creation of a BAC library, have provided the necessary tools for using he dog as a model to study genetic diseases including cataracts.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
5F32EY013677-02
Application #
6555828
Study Section
Special Emphasis Panel (ZRG1-SSS-R (02))
Program Officer
Liberman, Ellen S
Project Start
2002-09-09
Project End
Budget Start
2002-09-09
Budget End
2003-09-08
Support Year
2
Fiscal Year
2002
Total Cost
$54,352
Indirect Cost
Name
Cornell University
Department
Administration
Type
Schools of Veterinary Medicine
DUNS #
City
Ithaca
State
NY
Country
United States
Zip Code
14850
Hunter, Linda S; Sidjanin, Duska J; Hijar, Manuel Villagrasa et al. (2007) Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia. Mol Vis 13:431-42