Genomics help decode eye disease

Fort Lauderdale, FL-Breakthroughs in genetics and genomics will change our view of biology in coming decades, helping identify the causes of all single-gene eye diseases, gain insight into disease gene functions, untangle the genetics of common eye diseases, and bring the promise-and potential downsides-of personalized medicine into the clinic.

Dr. McInnes discussed genomic medicine and the future of eye research at the keynote session of the annual meeting of the Association for Research in Vision and Ophthalmology.

Genomic medicine is the practice of medicine based on large-scale genomic information. This is in contrast to genetics, which is focused on individual genes. In single-gene diseases such as retinitis pigmentosa, genomic medicine is focused on finding the disease gene by sequencing all the exons in the genome of an individual patient or patients in a family group. In the case of common diseases that have both genetic and environmental contributions, such as age-related macular degeneration, the current goal is to identify the variant forms of genes that can confer susceptibility to the disease.

Single-gene disorders are relatively common; of about 7,000 now identified that affect humans, about one-third involve the eye. Yet, there are undoubtedly human single-gene disorders affecting the eye and other tissues yet to be discovered, Dr. McInnes said.

The affected gene has been found in about 2,900 disorders and is unknown in another 3,600, although many could be identified within the next 5 years.

"However, there is almost certainly a huge substratum of single-gene disorders that have not yet been identified, and the estimates about this range from 4,500 to another 7,000 or so," he added.