The Role of Galactosylceramidase in Glaucoma
Co-Principal InvestigatorsMichael Hauser Duke University
This represents the first report of genomic copy number variants that confer a substantially increased risk of POAG. Considering how common CNVs are in the human genome this may be the first of many such associations. Further characterization of the GALC CNVs will improve our understanding of the etiology of primary open angle glaucoma, and could lead to the development of new tests or treatments for this debilitating disease.
Our study will be the first to incorporate DNA copy number variants into the genetic association of POAG. The proposed investigation on identified GALC DNA loss will enable us to design CNV-specific PCRs in order to easily screen other POAG samples or the general population in a high-throughput way. Being the first research to link GALC with POAG, our study will open a new research topic and promote more genetic, molecular, and animal studies related with GALC. Our proposed research will provide important and critical information to develop strategies for future genetic test, diagnosis, prevention, and potential therapy in POAG by targeting the loss of function of GALC.