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Singh Lab

Stem Cell & Disease Modeling Lab

The overall objective of our laboratory is to find treatments and possibly cures for specific retinal and neurodegenerative diseases. Towards this goal, our research program focuses on 1) understanding the normal physiology of the human retina, 2) using patient-derived human induced pluripotent stem cells (hiPSCs) to study the molecular mechanism of specific retinal and neurodegenerative diseases that affect the retina and 3) applying that knowledge to pharmacologically target certain retinal disorders in relevant animal models and patient-derived hiPSC-target cells. Furthermore, our specific focus for physiologic, disease modeling and pharmacological studies is the outer retina (the light sensing photoreceptor cells and its support epithelium, retinal pigment epithelium) and its underlying vascular support, the chorioid.

Image 1

Organizational schematic of the Photoreceptor-RPE- choroid complex that is affected in numerous retinal degenerative diseases.

The current projects in the laboratory as detailed below in the Projects sub-section are focused on 1) delineating the role of specific genes/proteins (e.g. CLN3, TIMP3, EFEMP1) in retinal homeostasis, 2) investigating the molecular and cellular basis of specific diseases (e.g. age-related macular degeneration or AMD, Sorsby’s fundus dystrophy, Batten’s disease or CLN3) that affect the outer retina, 3) establishing a human cell model/tissue mimetic of the outer blood retinal barrier-vascular complex, 4) elucidating the role of gene-environment interaction in the pathophysiology of specific inherited maculopathies and AMD, 5) dissecting the role of local (retina-choroid specific) and systemic (e.g. serum) influences on development of macular degeneration phenotypes and 6) pharmacologically targeting the central disease hallmarks of AMD, drusen formation and extracellular matrix, in a patient-derived hiPSC model of macular degeneration. Altogether, our approach to studying retinal physiology and disease development in the laboratory is utilizing patient-derived human induced pluripotent stem cells (hiPSCs) is summarized in the following schematic:

Image 2

Overall objective of the laboratory.

Ruchira Singh, Ph.D.

Ruchira Singh, Ph.D.

Principal Investigator

Publications

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Contact Us

  Singh Lab
SMD 1.3026
601 Elmwood Ave
Rochester, NY 14642