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P.A. Sieving; Where Do We Go...The Role of NEI . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1049.
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Genetic studies are providing novel insights into the biology and pathophysiology of visual disorders and diseases. Both Mendelian and genetically complex traits require attention to identifying special opportunities and unique disease populations. Unique Mendelian traits still remain to be "found," and this can be done through coordination broadly of eye care providers across the country. Individuals with complex traits may be easier to ascertain, but it is critical to develop consensus of specific phenotype definitions. Diagnostic genotyping is at the forefront of patient medical care. Concurrent with medical service to individuals, it will be important to establish mechanisms to gather genotype-phenotype information on a national scale. Identifying and collecting populations for genetic study, disease characterization and treatment trials will be accelerated by efforts nationally and internationally. Genotyping is important for assembling homogeneous populations for interventional studies and will play a critical role in clinical trials of the future.
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