Black Family Stem Cell Institute

Eye Regeneration

Deficiencies in eye development as well as degenerative diseases result in compromised vision and blindness.

Investigators at the Black Family Stem Cell Institute are studying eye development and patterning, stem cell modeling of human eye development and diseases, cell replacement therapy, and endogenous regenerative strategies for restoring vision.

Major research focuses include: examining the role of Wnt-Fz/PCP, Notch, and EGFR-signaling in eye development and patterning; understanding human retinal development in normal and diseased conditions; in vitro modeling eye diseases (age-related macular degeneration, proliferative vitreoretinopathy, and proliferative diabetic retinopathy) using pluripotent stem cells and retinal pigment epithelial cells; retinal stem cell biology and cell replacement therapy; and retinal regeneration via reprogramming resident stem cells.

Investigators with a major focus in eye research include:

Timothy A. Blenkinsop, PhD

Timothy A. Blenkinsop, PhD, is an Assistant Professor in the Department of Cell, Development, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai, as well as member of the Ophthalmology Department, the Black Family Stem Cell Institute, and Mount Sinai’s Eye and Vision Research Institute. His team is interested in understanding human retina development in normal and pathological situations, as well as in modeling in vitro various eye diseases. The lab’s primary interest lies in retina stem cell biology, cell replacement therapy, and endogenous retina regeneration potential. The lab uses adult human tissues and pluripotent stem cells-derived differentiated cells to probe retina physiology and model diseases such as age-related macular degeneration, proliferative vitreoretinopathy, and proliferative diabetic retinopathy. The main goal is to identify epigenetic regulation of cell plasticity for stimulating it with therapeutic benefit, while also modeling diseases where plasticity leads to disease.

Ongoing research interests include:

  • Exploring signaling transduction pathways involved in retinal pigment epithelium plasticity
  • Exploring cell replacement therapy for age-related macular degeneration
  • Researching cell fate specification of developing human eye field

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Bo Chen

Bo Chen, PhD, is an Associate Professor in Ophthalmology at the Icahn School of Medicine at Mount Sinai and Director of the Ocular Stem Cell Program in the Department of Ophthalmology at the Icahn School of Medicine at Mount Sinai and New York Eye and Ear Infirmary of Mount Sinai. The Chen Laboratory is focusing on mechanistic and therapeutic studies of retinal degenerative diseases typically characterized by the loss of photoreceptors and retinal ganglion cells. The diseases studied include age-related macular degeneration, retinitis pigmentosa, and glaucoma. In developing treatments for these degenerative conditions, Dr. Chen’s laboratory employs neural regenerative and protective research strategies to generate new retinal neurons and to save existing retinal neurons, respectively.

Ongoing research interests include:

  • Defining intrinsic signaling pathways and transcription control in Müller glial cells (MGs) and reprogramming them in vivo to generate MG-derived retinal stem cells capable of differentiating to new photoreceptors
  • Investigating the molecular mechanisms underlying histone deacetylase 4 (HDAC4)-mediated photoreceptor protection using animal models of retinal degenerative diseases
  • Exploring the functional role of calcium signaling in damaged ganglion cells (the primary cell type affected in glaucoma) and their axons

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Marek Mlodzik, PhD

Marek Mlodzik, PhD is Professor and Chair of Cell, Developmental, and Regenerative Biology, and Professor in the Departments of Oncological Sciences and Ophthalmology.  He is also on the IAB of the Tisch Cancer Institute, and organizes several cell signaling events in NYC. His team studies the mechanisms of the Wnt and Notch signaling pathways with specific focus on the role of Wnt-signaling in the planar cell polarity (PCP) pathway in normal organogenesis and patterning and disease contexts, including cancer, neural tube closure defects, and ciliopathies.  The Wnt/PCP pathway and Wnt signaling in general are critical in many stem cell niche interactions and stem cell maintenance. The lab uses primarily the Drosophila model for in vivo studies and mammalian cell based work for functional biochemical assays. His lab is the leader in the Wnt-PCP field, both in normal patterning as well as in functional disease dissections.

Ongoing research interests include:

  • Investigating the regulatory interactions among the core PCP signaling factors and associated cell adhesion behavior
  • Dissecting the process of nuclear translocation of beta-catenin in Wnt-signaling
  • Modeling the complex functional behavior of neural tube closure defect patients in PCP establishment in Drosophila
  • Understanding novel regulatory inputs to Notch signaling and associated read-outs

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