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.
We use several approaches to fish out these genes. We're studying large families with more than three members affected with a particular eye disease. We also conduct studies of uveitis by collecting individuals with disease and making comparisons in genetic make-up to healthy controls. We take blood samples from study participants (affected individuals, affected and unaffected family members, and healthy controls) and then extract DNA from these samples. The DNA is used to map eye disease genes to a specific spot on a chromosome or to compare genotypes of known variations in the human genome.
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 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 sequencing genes within the mapped regions.
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 blood or 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 mutation-finding studies and the gene expression microarrays to improve therapies for glaucoma, macular degeneration and uveitis.
Natural History of the Progression of Choroideremia Study
The purpose of this study is to learn more about Choroideremia; how this condition affects a person's eyes and vision and add to the knowledge base for this rare disease.