Dr. Stephen P. Daiger
The University of Texas Health Science Center at Houston
School of Public Health
Department of Epidemiology, Human Genetics and Environmental Sciences
Our research involves chromosomal mapping, DNA sequencing and molecular characterization of genes causing inherited retinal diseases in humans. The specific diseases we study are autosomal dominant and X-linked retinitis pigmentosa (RP). RP is a genetically-heterogeneous set of inherited diseases causing retinal degeneration and blindness. Our research includes 1) mutation screening in our Federally-certified diagnostic laboratory of genes known, or suspected, to cause RP, 2) DNA linkage studies in families without mutations in known genes, 3) genetic and clinical studies to identify factors modifying the clinical course of retinal disease, and 4) follow up studies of genes and proteins identified in earlier research, for example, RP1 and IMPDH1. In recent research we have used several versions of next generation sequencing to identify novel genes and mutations causing RP, including whole-exome NGS, whole-genome NGS and retinal-capture NGS. Dr. Daiger also maintains a Web site of all known retinal disease genes, RetNet, the Retinal Information Network. Students in recent years have worked on finding novel disease genes in large dominant RP families, testing candidate genes in a large cohort of RP patients, and developing novel DNA testing methods.