Worldwide nearly 50 million people are blind and another 150 million are victims of severe visual disability.

Now research offering a better understanding of the genetics controlling endemic eye diseases will be advanced by an international collaboration between Cardiff University ™s School of Optometry and Vision Sciences and the Department of Opthalmology, Kyoto Prefectural University of Medicine, Japan.

Professor Mike Boulton, Head of School of Optometry and Vision Sciences said: "This exciting and innovative partnership between two world-leading eye research groups will significantly improve our chances to treat a variety of eye diseases."

A number of subject areas have been identified for collaborative research including analysis of the optic discs for early diagnosis of glaucoma patients, which affects 70 million people across the world; improvement in the preservation of donor corneas for transplantation and identifying the genes responsible for high myopia.

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The new HSPH analysis method, which uses just one dataset, bypasses the multiple comparison problem altogether by first estimating how much genetics can explain a specific trait within a population, and then tracing the roots of the trait back to candidate SNPs that would explain that "genetic effect size." To test their methodology, the research team ran simulation studies using data from the Childhood Asthma Management Program (CAMP) Genetics Ancillary Study based at Channing Laboratory, Brigham and Women's Hospital, in Boston and data from a joint study conducted by the Mayo Clinic College of Medicine and Affymetrix. The results of the simulation studies suggested that the new approach outperformed the traditional approach by factors up to 100.

Besides dealing away with the multiple comparison problem, the HSPH technique offers another feature that is highly attractive to geneticists-the methodology appears to be able to find multiple SNPs involved in a single disease or trait.

"Many biomedical scientists today are interested in complex phenotypes, such as risk for unhealthy levels of body mass index, blood pressure, or cholesterol," said HSPH Assistant Professor of Biostatistics Christoph Lange, who is senior author on the paper. "Yet until now, no statistical tool existed that would allow researchers to look at several thousand disease genes and successfully identify those small number of genes that influence such complex traits."

The HSPH methodology is part of an analysis software program called PBAT, freely available at biostat.harvard/~clange/default.htm. The program was developed by Lange and HSPH Professor Nan Laird.

The CAMP Genetics Ancillary Study is supported by the National Heart, Lung, and Blood Institute. The joint study conducted by the Mayo Clinic College of Medicine and Affymetrix was supported by the Mayo Clinic Genomic Center and Comprehensive Cancer Center and by the National Institutes of Health (NIH). The NIH provided additional funding for the HSPH research.

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