Welcome to the Genetic Analysis Center at the Casey Eye Institute. Our research quest is identifying genes involved in glaucoma, macular degeneration, uveitis, as well other related eye disorders.
The Studies
We use several approaches to fish out these genes. We're studying large families with more than three members affected with either glaucoma or macular degeneration. And we research uveitis by studying families with two affected siblings. We take blood samples from family members and then extract DNA from these samples. The DNA is used to map the eye disease gene in the family to a specific spot on a chromosome.
Gene Sequences
The search begins for the specific gene once we find a gene location. The Human Genome Project (http://www.ncbi.nlm.nih.gov:80/) has streamlined this task. The human genome is already 90 % sequenced, taking care of the hardest part of finding a gene. However, even if all of the sequence in a specific region is available, we may not know all of the genes within this sequence. Thus, bioinformatics is an increasingly important tool used at the Casey Eye Institute as well as many other institutes for identifying potential gene sequences. We identify potential mutations underlying the eye disease by studying sequencing genes within the mapped regions.
DNA Microarrays
Another method used for analyzing genes potentially involved in glaucoma, macular degeneration and uveitis is DNA microarrays. These are chips that contain thousands of genes. The expression of these genes is studied in tissues from patients with ocular diseases using these gene microarrays to determine if specific groups of genes are perturbed in these diseases. With this information we hope to gain insight into the differences between individuals with normal sight and those with problems such as macular degeneration, glaucoma or uveitis.
Our ultimate goal is to use the knowledge from the combination of the family studies and the gene microarrays to improve therapies for glaucoma, macular degeneration and uveitis.
Also see the section on genetic research in our Macular Degeneration website.
Faculty
- Ted S. Acott, Ph.D.
- Michael L. Klein, MD
- Tammy Martin, Ph.D.
- James T. Rosenbaum, MD
- Justine Smith, M.B.B.S., Ph.D.
- Dennis W. Schultz, Ph.D.
- Mary K. Wirtz, Ph.D.