Studies Toward A Genetic Understanding of Glaucoma

Simon John, PhD
The Jackson Laboratory (Bar Harbor, ME)
Year Awarded:
1999
Grant Duration:
April 1, 1999 to March 31, 2001
Disease:
Glaucoma
Award Amount:
$50,000
Grant Reference ID:
G1999023
Award Type:
Standard
Award Region:
US Northeastern

Studies Toward A Genetic Understanding of Glaucoma

Details

Although elevated intraocular pressure (IOP) is a hallmark of glaucoma, not all people with high IOP develop glaucoma. Thus, other factors contribute to the disease, and Dr. John is investigating whether genes that cause IOP interact with other glaucoma genes that affect the optic nerve and retina. Using mouse genetics, Dr. John has found inbred lines of mice in which differences in IOP are inherited. He is working to obtain a higher-resolution genetic map to aid in identifying the genes causing high IOP. In addition, Dr. John has found that genes from one mouse strain can decrease the severity of glaucoma in a recipient mouse strain. He is extending this project by trying to identify these glaucoma modifier genes. Identifying modifier genes in humans is very difficult, but if these genes can be identified in mice, then their role in human glaucoma may be more easily determined. This information could help identify people who are at risk for developing the disease. This is a further development of Dr. John's previous study.
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