Gene for age-related macular degeneration discovered by Yale researchers

sociated with the same variant in the CFH gene.

Hoh and her team used new genetic analysis and microscopic imaging technologies to find the genetic variant of the AMD gene. "What sets our study apart from previous research is that we used many more genetic markers to find the specific gene and variation," said Hoh. "Past research has involved collecting family data that pinpoint a region on chromosome 1, but failed to find the specific gene. We analyzed the DNA of unrelated patients with AMD and compared their genetic profile to that of AMD-free controls. In this sea of DNA information, we applied computation-intensive, statistical analyses and were able to find the differences between the two groups. Subsequently, the gene association has been confirmed by at least three independent studies with results pending publication."

"This work is not only important for the gene we have found, but also highlights the value in new paradigms for whole genome analysis for chronic diseases," Hoh added. "I believe that in order to find genes responsible for diseases, you have to use a totally different approach, instead of an educated guess. Our findings support greater use of this technique."

Other authors on the study are Caroline Zeiss, Susan T. Mayne, Michael B. Bracken, Colin Barnstable and Shrikant M. Mane of Yale; Robert J. Klein, Richard S. Sackler, M.D., Chad Haynes and Jurg Ott of Rockefeller University; and Alice K. Henning, John Paul San Giovanni, Emily Y. Chew, M.D., and Frederick L. Ferris, M.D. of the National Eye Institute.


Contact: Karen N. Peart
Yale University

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