UF Discovery Of Chicken Gene Mutation Aids Study Of Rare Inherited Eye Disease

for studying human eye diseases.

Inherited retinal diseases affect 100,000 to 200,000 people in the United States and more than 1 million worldwide. While only one to three people in 100,000 suffer from LCA, scientists speculate that successful gene therapy for this disease may be helpful in developing treatments for other autosomal recessive diseases, such as cystic fibrosis.

Rowland has published several papers on her research, most recently in the February issue of the Proceedings of the National Academy of Sciences. A $1.1 million grant from the National Institutes of Health supports her research, and she has applied for a new NIH grant to further fund the gene therapy study.

Rowland is collaborating with Krzysztof Palczewski of the University of Washington, Wolfgang Baehr of the Moran Eye Center at the University of Utah Health Science Center, and Lung-Ji Chang, an associate professor of molecular genetics and microbiology in UF's College of Medicine.

Three other UF College of Medicine researchers also are presenting their work at the retinal degeneration symposium. Bill Hauswirth, the Rybaczki-Bullard eminent scholar of ophthalmology and molecular genetics and microbiology, and Al Lewin, a professor in the department of molecular genetics and microbiology, will present information on AAV gene therapies for retinal diseases. Paul Hargrave, the Francis N. Bullard eminent scholar of ophthalmology and biochemistry and molecular biology, will present some of his most recent work on the visual pigment protein, rhodopsin. Hargrave has shown how mutations in this protein cause certain forms of inherited eye disease.


Contact: Paul Ramey
(352) 392-3845
University of Florida

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