Radha Ayyagari

Biography

Research Interests: We use molecular genetics and cell biology approaches to understand the mechanisms involved in causing inherited retinal and macular dystrophies. We study early and late-onset retinal/macular degenerations with Mendelian and complex patterns of inheritance.  Our research strategy involves identifying mutations in novel genes causing inherited retinal degenerations, understanding the function of these genes, determining the pathways that are involved in causing disease pathology and evaluating novel therapeutic interventions to delay the onset or treat the progression of degeneration. We study patients and naturally occurring animal models with inherited retinal disease to identify novel disease associated genes using whole genome or exome analysis methodologies.  Functional analysis and evaluation of therapies is carried out using cell culture and genetically engineered animal models.  Our laboratory is also involved in providing molecular diagnostic testing for ocular diseases. The ophthalmic molecular diagnostic testing will help in determine the genetic basis of the disease, provides specific diagnosis, identification of individuals at risk to develop the disease, carrier testing, and more importantly, identification of individuals that are suitable for some of the emerging gene-based treatments. We developed microarray based sequencing arrays to efficiently screen multiple retinal genes for mutations on a single platform.  We are currently evaluating whole genome analysis strategies for diagnostic genotyping.

Research Interest

Genetics & Genomics Neurobiology of Disease