Grant: Operating Grant

Until recently the contribution of chromosomal anomalies to human disease was under-appreciated. Although chromosomal duplications and deletions were known to occur, these were considered relatively rare (e.g. Down's syndrome). Advent of new approaches, primarily genetic arrays, have revealed that small chromosomal changes are exceedingly common - indeed they account for 12% or more of our genomes. This grant uses such small chromosomal anomalies as the starting point to study genes that are involved in eye development and disease. We will use array technology to identify genes that underlie cases of early-onset glaucoma and characterize these genes to determine their role in commoner late-onset disease. In parallel, we will characterize the function of a new gene, where we have considerable evidence that it has an important role in retinal development, and due to its location within glaucoma-associated chromosomal anomalies, may contribute to glaucoma. Taken together, these studies will improve understanding of the disease processes that lead to glaucoma, with considerable opportunities to translate this information into improved patient management.