Studies Toward A Genetic Understanding of Glaucoma

Simon John, PhD The Jackson Laboratory

Project 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.