Monday, February 12, 2007

Section 11-B(1): Candidate gene approach to glaucoma

The core features of the candidate gene approach are:
1) making a list of candidate genes that might cause glaucoma if their normal function was altered and
2) testing a large group of unrelated glaucoma patients for defects in these candidate genes.

Identifying candidate genes.
Several types of genes are suspected of having a role in the development of glaucoma. Some of the best candidate genes have functions that suggest they may be important in glaucoma such as 1) genes that are active in the drainage angle where fluid leaves the eye;
2) genes that are active in the ciliary body where fluid enters the eye;
3) genes with functions that suggest they regulate the intraocular pressure; and
4) genes that may be important in maintaining the health of the optic nerve.

Testing candidate genes.
Candidate genes are evaluated for a possible role in causing glaucoma by testing the DNA of large numbers of unrelated glaucoma patients for disease-causing defects. Candidate gene screening is a useful research approach to discover disease-causing genes. This research is dependent on the enrollment of hundreds of volunteer subjects that have glaucoma. By participating in candidate gene studies of glaucoma, patients may learn something about the reasons why they developed glaucoma as well as help with research efforts to study the disease.

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