Scientists of the Department of Ophthalmology and Visual Sciences at the University of Michigan 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 analysing complex patterns of inheritance and for understanding how causative genes might interact with each other.”

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 provide a precise diagnosis, and this knowledge will also allow us to apply genetic therapies as they are developed,” he says.

Ayyagari’s study involved 70 individuals with a clinical diagnosis of arRP. The arRP-I chips designed by the Kellogg research team produced 97.6 percent of the sequence analysed with greater than 99 percent accuracy and reproducibility. The material cost of the arRP-I chip was 23 percent less that of current sequencing methods. That figure does not take into account the substantial savings in time and labour realised by analysing multiple genes at once. The chips can detect both previously known and novel mutations.; Source: University of Michigan Health System