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Geneticist focuses on glaucoma

As Bassem Bejjani describes genetic research, it almost sounds easy: The beauty of genetic research is that it is simple building blocks, like Legos.

Bejjani, research professor in the Health Research and Education Center at WSU Spokane, seeks to understand abnormalities in organ development and structure caused by genetic mutation. In particular, he conducts genetic research into congenital glaucoma and other eye diseases.

Why the eye? “At Baylor (College of Medicine, where he had a postdoctoral fellowship in medical genetics), they had a fridge full of samples from Saudi Arabia from people with glaucoma that no one was studying,” he says. So he took it up.

Congenital glaucoma affects 1 in 30,000 people in the United States, but rates are much higher in Saudi Arabia and other Middle Eastern countries.

His examination of congenital glaucoma has found that a “housekeeping gene” (cytochrome) — a gene that produces enzymes to help you metabolize food and drugs — affects the structural development of the eye, which is highly unusual.

Some people with the gene do not develop congenital glaucoma. Understanding the role of the cytochrome could lead to treatment based on whatever is protecting those who do not develop the disease.

The World Health Organization estimates that 5.2 million people nationwide are blind from the form of glaucoma that typically develops later in life. Bejjani’s investigation of the rare congenital form might ultimately provide insights into the development of the more common form, and aid in its prevention and treatment.

He also is beginning research into keratoconus (cone-shaped cornea). This is the most common cause of corneal transplants; the only other treatment available is the use of hard lenses that serve to reshape the eye. The goal of his research is to understand the development of the cornea in hopes of developing nonsurgical treatment.

Bejjani also works at Spokane’s Sacred Heart Medical Center as co-director of molecular diagnostics. As a pediatric geneticist, Bejjani cares for patients with genetic disorders by diagnosing, coordinating care, anticipating the course of development of a child’s condition, and counseling the patient and family.

Bejjani has received funding to investigate alveolar capillary dysplasia. In this rare and devastating condition, newborns with malformed lungs suffer from severe and incurable respiratory problems and die quickly.

The combination of his physician and scientist roles draws on Spokane’s resources as a regional medical center and the presence of Washington State University as a research university. The availability of such specialized expertise will draw patients from a large region to Spokane for diagnosis and care not previously available, increasing its stature as a premier destination for medical care.

His funded research has totaled almost $1.75 million to date, with much of this support from the National Eye Institute, a division of the National Institutes of Health. Researchers on his team include physician Zongren Wang, microbiologist Carla Bidinost and technologist Dan Winters.

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