Retinal dystrophies are a phenotypically and genotypically heterogeneous group of diseases that are inherited in autosomal dominant, autosomal recessive, X-linked, mitochondrial, and complex modes. Due to the complexity of these retinal diseases, it is always a challenge for the clinicians to diagnose these disorders. To confirm diagnosis and help patients understand their risk for inherited eye disease, we provide genetic testing for retinal diseases.
In collaboration with Medicinal Chemists, and Nutritional Biochemists, we are developing effective therapeutic strategies to treat photoreceptor degeneration.
We screen dietary compounds, identify the potential therapeutic agents, and elucidate the possible mechanism by which the dietary compounds protect the photoreceptors from degeneration.
Our studies provide the experimental basis to develop novel therapies to treat retinal and macular degenerations. Evaluation of the mechanism underlying the effect of these dietary compounds will help to identify new therapeutic target that trigger the degeneration of the photoreceptors. Identification of such mechanisms are essential for extending research to preclinical and clinical studies. The therapeutic potential and the m
echanism of action of these compounds will be tested by using in vitro cell culture system and in vivo animal models of retinal degeneration caused by protein trafficking defect, oxidative stress, early and late on-set retinal degeneration.
In order to mimic the patho physiology associated with human macular degeneration, we generated and characterized animal models with retinal degenerations.
Apart from the generation of genetically modified animal models we also study the retinal degeneration phenotype in spontaneously developed animal models.
Evaluation of these animal models constitutes a powerful tool to investigate the role of specific gene mutations and the associated cellular defects which ultimately lead to retinal degeneration.