NIH Grant Supports Gene Mapping for Eye Condition

SPOKANE, Wash. — Four years of funding from the National Institutes of Health will support research at Washington State University Spokane focusing on the number-one cause of corneal transplants in the developed world. Bassem Bejjani, MD, a research professor at WSU Spokane and co-director of molecular diagnostics at Sacred Heart Medical Center, received the funding for his research.

Keratoconus, or cone-shaped cornea, is caused by a thinning of the cornea. A progressive and sometimes painful condition, it is currently treated with hard lenses that reshape the cornea, but the treatment is not always successful. The only other treatment, once the condition has progressed, is a corneal transplant. More than 40,000 corneal transplants are performed every year in the U.S., and the majority of these are because of keratoconus.

Bejjani, a genetic researcher who has conducted federally funded research on congenital glaucoma, says keratoconus is not currently known to be a genetic condition. However, in a trip to Ecuador to collect samples for his work on congenital glaucoma, which is a genetic condition, he said he met a doctor who told him about nearly three dozen families with the condition, suggesting the possibility of a genetic component.

Bejjani and his colleague from Baylor College of Medicine in Houston, Richard A. Lewis, collected samples from some of these families and submitted a proposal to the NIH. Bejjani was awarded a total of $1.3 million over four years.

The funding will support mapping of the genes in an effort to find a genetic link. Bejjani will conduct a genome-wide screen in which he examines the genome of each and every one of the people in these families.

He will look for similarities among those who have the condition, comparing their DNA with that of their unaffected siblings, to decide on candidate regions of the genome that have one or more genes for keratoconus. The work will be performed by the research team he has already assembled for his other funded investigations.

No one really knows the cause of keratoconus. Identification of a genetic component would help narrow down the possibilities and could perhaps lead to the development of nonsurgical interventions such as eye drops or other therapies that could help treat the condition.

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