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Ruchira Singh, Ph.D.

Ruchira Singh, Ph.D.

Contact

Office (585) 276-7338

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About Me

Faculty Appointments

Associate Professor - Department of Ophthalmology (SMD)

Dean's Professorship - Department of Ophthalmology (SMD)

Associate Professor - Department of Biomedical Genetics (SMD) - Joint

Research

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 ...
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

Publications

Journal Articles

Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.

Han J, Chear S, Talbot J, Swier V, Booth C, Reuben-Thomas C, Dalvi S, Weimer JM, Hewitt AW, Cook AL, Singh R

Investigative ophthalmology & visual science.. 2024 November 465 (13):23. Epub 1900 01 01.

Tissue Inhibitor of Metalloproteinase 3 (TIMP3) mutations increase glycolytic activity and dysregulate glutamine metabolism in RPE cells.

Grenell A, Singh C, Raju M, Wolk A, Dalvi S, Jang GF, Crabb JS, Hershberger CE, Manian KV, Hernandez K, Crabb JW, Singh R, Du J, Anand-Apte B

Molecular metabolism.. 2024 October 88 :101995. Epub 07/22/2024.

Human iPSC-based disease modeling studies identify a common mechanistic defect and potential therapies for AMD and related macular dystrophies.

Dalvi S, Roll M, Chatterjee A, Kumar LK, Bhogavalli A, Foley N, Arduino C, Spencer W, Reuben-Thomas C, Ortolan D, Pébay A, Bharti K, Anand-Apte B, Singh R

Developmental cell.. 2024 September 26 Epub 09/26/2024.

Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease.

Han J, Chear S, Talbot J, Swier V, Booth C, Reuben-Thomas C, Dalvi S, Weimer JM, Hewitt AW, Cook AL, Singh R

bioRxiv : the preprint server for biology.. 2024 June 13 Epub 06/13/2024.

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.

Swier VJ, White KA, Johnson TB, Wang X, Han J, Pearce DA, Singh R, Drack AV, Pfeifer W, Rogers CS, Brudvig JJ, Weimer JM

Disease models & mechanisms.. 2023 August 116 (8)Epub 08/07/2023.

AMD recapitulated in a 3D biomimetic: A breakthrough in retina tissue engineering.

Dalvi S, Chatterjee A, Singh R

Cell stem cell.. 2023 March 230 (3):243-245. Epub 1900 01 01.

Extracellular vesicles: an emerging player in retinal homeostasis.

Chatterjee A, Singh R

Frontiers in cell and developmental biology.. 2023 11 :1059141. Epub 04/25/2023.

3D iPSC modeling of the retinal pigment epithelium-choriocapillaris complex identifies factors involved in the pathology of macular degeneration.

Manian KV, Galloway CA, Dalvi S, Emanuel AA, Mereness JA, Black W, Winschel L, Soto C, Li Y, Song Y, DeMaria W, Kumar A, Slukvin I, Schwartz MP, Murphy WL, Anand-Apte B, Chung M, Benoit DSW, Singh R

Cell stem cell.. 2021 May 628 (5):846-862.e8. Epub 03/29/2021.

3D iPSC modeling of the retinal pigment epithelium-choriocapillaris complex identifies factors involved in the pathology of macular degeneration.

Manian KV, Galloway CA, Dalvi S, Emanuel AA, Mereness JA, Black W, Winschel L, Soto C, Li Y, Song Y, DeMaria W, Kumar A, Slukvin I, Schwartz MP, Murphy WL, Anand-Apte B, Chung M, Benoit DSW, Singh R

Cell stem cell.. 2021 May 628 (5):978. Epub 1900 01 01.

A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.

Tang C, Han J, Dalvi S, Manian K, Winschel L, Volland S, Soto CA, Galloway CA, Spencer W, Roll M, Milliner C, Bonilha VL, Johnson TB, Latchney L, Weimer JM, Augustine EF, Mink JW, Gullapalli VK, Chung M, Williams DS, Singh R

Communications biology.. 2021 February 54 (1):161. Epub 02/05/2021.

The Role of FGF9 in the Production of Neural Retina and RPE in a Pluripotent Stem Cell Model of Early Human Retinal Development.

Gamm DM, Clark E, Capowski EE, Singh R

American journal of ophthalmology.. 2019 October 206 :113-131. Epub 05/10/2019.

Sorsby fundus dystrophy: Insights from the past and looking to the future.

Anand-Apte B, Chao JR, Singh R, Stöhr H

Journal of neuroscience research.. 2019 January 97 (1):88-97. Epub 08/21/2018.

Environmental stress impairs photoreceptor outer segment (POS) phagocytosis and degradation and induces autofluorescent material accumulation in hiPSC-RPE cells.

Dalvi S, Galloway CA, Winschel L, Hashim A, Soto C, Tang C, MacDonald LA, Singh R

Cell death discovery.. 2019 5 :96. Epub 05/16/2019.

Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.

Dalvi S, Galloway CA, Singh R

Advances in experimental medicine and biology.. 2019 1186 :1-31. Epub 1900 01 01.

Characterization of Human iPSC-RPE on a Prosthetic Bruch's Membrane Manufactured From Silk Fibroin.

Galloway CA, Dalvi S, Shadforth AMA, Suzuki S, Wilson M, Kuai D, Hashim A, MacDonald LA, Gamm DM, Harkin DG, Singh R

Investigative ophthalmology & visual science.. 2018 June 159 (7):2792-2800. Epub 1900 01 01.

Drusen in patient-derived hiPSC-RPE models of macular dystrophies.

Galloway CA, Dalvi S, Hung SSC, MacDonald LA, Latchney LR, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung MM, Gamm DM, Pébay A, Hewitt AW, Singh R

Proceedings of the National Academy of Sciences of the United States of America.. 2017 September 26114 (39):E8214-E8223. Epub 09/06/2017.

Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration.

Singh R, Kuai D, Guziewicz KE, Meyer J, Wilson M, Lu J, Smith M, Clark E, Verhoeven A, Aguirre GD, Gamm DM

Molecular therapy : the journal of the American Society of Gene Therapy.. 2015 November 23 (11):1700-1711. Epub 08/24/2015.

Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2.

Phillips MJ, Perez ET, Martin JM, Reshel ST, Wallace KA, Capowski EE, Singh R, Wright LS, Clark EM, Barney PM, Stewart R, Dickerson SJ, Miller MJ, Percin EF, Thomson JA, Gamm DM

Stem cells.. 2014 June 32 (6):1480-92. Epub 1900 01 01.

Functional analysis of serially expanded human iPS cell-derived RPE cultures.

Singh R, Phillips MJ, Kuai D, Meyer J, Martin JM, Smith MA, Perez ET, Shen W, Wallace KA, Capowski EE, Wright LS, Gamm DM

Investigative ophthalmology & visual science.. 2013 October 1754 (10):6767-78. Epub 10/17/2013.

CB1 cannabinoid receptor agonist prevents NGF-induced sensitization of TRPV1 in sensory neurons.

McDowell TS, Wang ZY, Singh R, Bjorling D

Neuroscience letters.. 2013 September 13551 :34-8. Epub 07/12/2013.

Modeling retinal degenerative diseases with human iPS-derived cells: current status and future implications.

Gamm DM, Phillips MJ, Singh R

Expert review of ophthalmology.. 2013 June 18 (3):213-216. Epub 1900 01 01.

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration.

Singh R, Shen W, Kuai D, Martin JM, Guo X, Smith MA, Perez ET, Phillips MJ, Simonett JM, Wallace KA, Verhoeven AD, Capowski EE, Zhang X, Yin Y, Halbach PJ, Fishman GA, Wright LS, Pattnaik BR, Gamm DM

Human molecular genetics.. 2013 February 122 (3):593-607. Epub 11/08/2012.

Expression of epithelial calcium transport system in rat cochlea and vestibular labyrinth.

Yamauchi D, Nakaya K, Raveendran NN, Harbidge DG, Singh R, Wangemann P, Marcus DC

BMC physiology. 2010 January 2910 :1. Epub 01/29/2010.

Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.

Wangemann P, Kim HM, Billings S, Nakaya K, Li X, Singh R, Sharlin DS, Forrest D, Marcus DC, Fong P

American journal of physiology. Renal physiology.. 2009 November 297 (5):F1435-47. Epub 08/19/2009.

Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model.

Singh R, Wangemann P

American journal of physiology. Renal physiology.. 2008 January 294 (1):F139-48. Epub 10/24/2007.

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model.

Jabba SV, Oelke A, Singh R, Maganti RJ, Fleming S, Wall SM, Everett LA, Green ED, Wangemann P

BMC medicine.. 2006 December 224 :37. Epub 12/22/2006.

Microarray-based comparison of three amplification methods for nanogram amounts of total RNA.

Singh R, Maganti RJ, Jabba SV, Wang M, Deng G, Heath JD, Kurn N, Wangemann P

American journal of physiology. Cell physiology.. 2005 May 288 (5):C1179-89. Epub 12/21/2004.