The major research interest in my lab is identifying genes involved in the pathogenesis of glaucoma. We are using two approaches towards this goal. The first is a genetics approach analyzing families in which three or more members have glaucoma. The second is characterizing the expression of genes in the trabecular meshwork, a tissue which may be the primary site of the defect in glaucoma. My lab has mapped two major glaucoma genes (GLC1C and GLC1F). The Human Genome Project, which is just now completing the sequencing of the human genome, has become an integral reference in our work to identify these genes. Using bioinformatics and the sequences provided by the Human Genome Project, a physical map of the GLC1C and GLC1F regions is being made. Mutational analysis of genes identified in these two regions has become a major focus of the lab.

The second approach for identifying genes intimately connected to glaucoma is to characterize the genes in the trabecular meshwork. A human trabecular meshwork cDNA library has been constructed and individual clones are being sequenced. These sequences will give us an overall picture of how the trabecular meshwork functions. New genes identified by this process will be of special interest and will be carefully characterized. With the information from the trabecular meshwork cDNA library, DNA microarrays will be built to begin to ask fundamental questions about glaucoma.

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Kitsos G, Eiberg H, Economou-Petersen E, Wirtz MK, Kramer PL, Aspiotis M, Tommerup N, Peterson MB, Psilas K. Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. European Journal of Human Genetics. 2001;9(6):452-457.

Xu H, Acott TS, Wirtz MK: Identification and Expression of a Novel Type I Procollagen C-Proteinase Enhancer Protein Gene from the Glaucoma Candidate Region on 3q21-24. Genomics, 66:264-273, 2000.

Wirtz MK, Samples JR, Rust K, Lie, J, Nordling L, Schilling K, Acott TS, Kramer PL: GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol, 117:237-241, 1999.

Wirtz MK, Acott TS, Samples JR, Morrison JC: Prospects for genetic intervention in primary open-angle glaucoma. Drugs & Aging, 13:333-340, 1998.

Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz MK, Acott TS: Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 116:1082-1088, 1998.

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