Ruchira Singh, Ph.D.

The overall objective of my research is to find treatments and possibly cures for retinal and neuro-degenerative diseases. Towards this goal my research program focuses on 1) using patient-derived human induced pluripotent stem cells (hiPSCs) to study the molecular mechanism of specific retinal and neurological diseases and 2) applying that knowledge to pharmacologically target certain retinal disorders in patient-derived cells.

The retina is an extension of the central nervous system that has been shown to share the pathological manifestations of a number of neurological disorders, including Alzheimer's disease, Parkinson's and multiple sclerosis. Moreover, patients with age-related macular degeneration (AMD), a disease of the central retina, have been shown to have non vision–related cognitive decline. Furthermore, a number of physiological processes that are affected in neuro-degenerative diseases are also impacted in retinal degenerative diseases. To cite a few examples, perturbation in phagocytic clearance, iron metabolism, polarized fluid transport and blood–tissue barrier function are all major cellular characteristics of degenerative diseases of both the retina and the brain. Therefore studying mechanisms of specific retinal degenerative diseases also has significant relevance for understanding other neurological disorders.

The current projects in the laboratory utilize patient-derived hiPSCs for:

• Studying the role of individual cell layer and intercellular interaction in retinal physiology and disease development

• Delineating the disease mechanism(s) of inherited retinal degenerative disease(s) and age-related macular degeneration

• Elucidating the role of gene-environment interaction in the pathophysiology of macular degeneration

More details about specific projects can be found on my lab website