In the September issue of Investigative Ophthalmology & Visual Science (IOVS), scientists at the U-M Department of Ophthalmology and Visual Sciences report on the arRP-I sequencing array, the first technology to screen simultaneously for mutations in multiple genes on a single platform.
This is a novel tool for scientists and physicians alike, says lead author and Kellogg scientist Radha Ayyagari, Ph.D. "For diseases that are associated with multiple genes, like RP, we now have a new and faster method for identifying the underlying genetic basis. This is also useful in analyzing complex patterns of inheritance and for understanding how causative genes might interact with each other."
RP is a group of diseases, affecting one in every 3,500 individuals, in which retinal degeneration leads to blindness or severe vision loss.
Among the outward signs and symptoms are loss of peripheral vision, night blindness, and abnormal results from an electroretinogram (ERG), a test that measures the electrical activity and function of the retina. A patient with the autosomal recessive form of the disease (arRP) has inherited one gene from each parent, neither of whom is affected by RP.
It is nearly impossible to identify which form of the disease a patient has through a clinical examination alone, notes John R. Heckenlively, M.D., a specialist in inherited eye disease who also participated in the study.
"Identifying the precise genetic mutation responsible for an individual's disease will allow us to provid
Contact: Betsy Nisbet
University of Michigan Health System