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January 2007

Ophthalmic Genetics: At the Dawn of Discovery

Arch Ophthalmol. 2007;125(1):9-10. doi:10.1001/archopht.125.1.9

Now this is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the beginning.—Winston Churchill, 1942

Ophthalmic genetics is undergoing a major transformation. The role of heredity in ocular disease has been explored for more than 100 years, with the early focus on conditions that could be identified specifically as straightforward mendelian inherited disorders. In these disorders replication of the trait is easily observed, and clear-cut probabilities of transmission can be readily calculated. The discovery of DNA and advances in DNA-related technologies have led to significant advances in the genetics of all diseases (and traits), including those affecting the visual system. Progress in the field has accelerated, aided by the completion of the Human Genome Project in 2003 and the International HapMap Project in 2005. The Human Genome Project aimed to identify all of the approximately 20 000 to 25 000 genes in human DNA and to determine the sequences of the 3 billion base pairs that make up human DNA.1,2 The HapMap Project's goal was to develop a haplotype map of the human genome, the HapMap, which describes the common patterns of human DNA sequence variation, thus providing a necessary infrastructure for single nucleotide polymorphism–based genetic analyses.3 Because of the success of these projects, the research community now has access to a vast amount of publicly available genetic data and new tools that facilitate novel and efficient approaches to study the genetic contribution to heritable diseases. This explosion of information has heightened our appreciation of the role of genetics in human disease and has stimulated the development of new research fields such as genomics, proteomics, computational biology, and bioinformatics. Furthermore, existing research methods in epidemiology and biostatistics have expanded to address the extensive complexities of the newly available data. As a result, the approach to genetic research has experienced a paradigm shift from single investigator–initiated projects to investigations requiring collaborative multidisciplinary teams of health care professionals, molecular biologists, epidemiologists, biostatisticians, and other scientists who merge their basic science and clinical and statistical expertise to translate basic science into clinical and population-based domains.

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