As reported by the Northeast Network Healthcare Review, April 22, 2005.

Health Center Research Team Discovers New Glaucoma Gene

Farmington, CT -- Researchers at the University of Connecticut Health Center discovered a gene that causes late-onset primary open-angle glaucoma.

The discovery was made by Mansoor Sarfarazi, PhD, director of Molecular Ophthalmic Genetics Laboratory and professor of human molecular genetics, Surgical Research Center, Department of Surgery, and his graduate assistant and doctoral candidate, Sharareh Monemi, MD.

The gene is the third glaucoma-causing gene discovered by the Molecular Ophthalmic Genetics Laboratory. The newly identified gene is WDR36 and maps to the GLC1G locus on chromosome 5q22.1.

The discovery will enhance screening for the late-onset form of glaucoma. It will improve early diagnosis of glaucoma, which allows earlier and better treatment, and the discovery also advances the likelihood of gene-targeted therapies.

“Finding this gene was gratifying,” Sarfarazi said. “This discovery will improve screening of at-high-risk individuals and help to identify those who could develop glaucoma decades later. It will also help in designing more effective treatments for them. But the real work has just begun. There’s always more to learn.”

Glaucoma affects more than two million Americans and more than 33 million people worldwide. After cataracts, it is the second largest cause of blindness. Although there is no cure, medication or surgery can be effective treatments.

The numbers involved in the discovery were daunting: the researchers were originally faced with a universe of three billion base pairs of DNA material. That number was winnowed to 35 million pairs by locating the region of the chromosome where the gene was thought to reside. Additional study further narrowed the number to 7 million and colleagues working on a similar problem in Oregon helped narrow it further to 2 million base pairs of DNA.

In the end, Sarfarazi and Monemi investigated over 34,000 base pairs of DNA before the one mutation they were searching for turned up.