Research interests: Retinal development, genetics, and therapy
Contact Information: Email 301-435-5754
6 Center Drive
Bethesda, Maryland 20892-1204
Dr. Swaroop obtained his M.Sc. in Biochemistry from the G.B. Pant University of Agriculture and Technology and his Ph.D. in Biochemistry at the Indian Institute of Science, Bangalore--both in India. After completing his postdoctoral training at Yale University in molecular biology and human genetics, he joined the faculty at the University of Michigan as an assistant professor in the Departments of Ophthalmology and in Human Genetics. He became a full professor in 2000, and held the Harold F. Falls Collegiate Professorship from 2003 to 2007. In September 2007, Dr. Swaroop established the Neurobiology-Neurodegeneration and Repair Laboratory at the National Eye Institute to advance research in all aspects of retinal biology, disease and therapy.
The studies in the Swaroop laboratory have focused primarily on 1) genetic and epigenetic regulation of photoreceptor development and aging, 2) genetic defects and mechanisms of photoreceptor dysfunction in retinal neurodegeneration, 3) genetics of age-related macular degeneration, and 4) design of new therapeutic paradigms using cell, gene or small molecule-based approaches.
Dr. Swaroop has received many honors, including the Board of Director’s award from The Foundation Fighting Blindness, the Harrington Senior Scientific Award from Research to Prevent Blindness, the Distinguished Faculty Lectureship Award of the University of Michigan Medical School, the Bireswar Chakrabarti Memorial Oration Award by the Indian Eye Research Group, the Prof. P.N. Chhuttani Chair as Distinguished Medical Scientist (visiting) at the Post Graduate Institute of Medical Education and Research, and the Outstanding Alumnus award from G.B. Pant University. Dr. Swaroop has received the National Eye Institute Director’s award and Alcon Award for Outstanding Vision Research. He was honored by ARVO as a Gold Fellow for his service to the vision community, and by the NIH Director’s Ruth L. Kirschstein Award "for exemplary performance while demonstrating significant leadership, skill and ability in serving as a mentor."
Dr. Swaroop has trained over 500 students, interns and fellows. A number of his trainees hold faculty or scientist positions at institutions and/or biomedical industries worldwide. Dr. Swaroop has published almost 350 peer-reviewed articles, invited chapters and reviews (Scopus h-index=71), and has delivered 300 invited lectures including several named and keynote talks worldwide. Dr. Swaroop is on the advisory and editorial boards of, and reviews manuscripts for, many high impact journals. He routinely contributes to institutional committees for promotions and tenure and evaluates grants for several national and international funding agencies.
The goals of research in the Neurobiology Neurodegeneration & Repair Laboratory (NNRL) are to elucidate molecular and cellular pathways underlying retinal development, aging, and disease, and to design novel treatment modalities for blinding retinal diseases. As photoreceptor dysfunction or death is the primary cause of vision loss in retinal and macular neurodegeneration, the research in the NNRL is organized around the following three programs:
Genetic and Epigenetic Regulation of Retinal Development and Aging: Our goals are to elucidate gene regulatory networks that guide differentiation of photoreceptor subtypes in the mouse and human retina and in retinal organoids derived from embryonic or induced pluripotent stem cells (iPSCs). We are dissecting transcriptional control pathways and integrating transcriptome, epigenome and proteomic profiles from photoreceptors (and whole retina). As a prelude to understanding the complexities associated with synaptic wiring, we are especially focusing on photoreceptor pre-synapse morphogenesis and connectivity to horizontal and bipolar cells.
Genetic Variants, Epigenome and Retinal Disease Phenotypes: Using next generation sequencing and high throughput genotyping, we are identifying genetic defects in inherited retinal degenerative diseases and susceptibility variants associated with common multifactorial diseases, specifically age-related macular degeneration (AMD). We are also defining cellular pathways underlying photoreceptor degeneration with special focus on intracellular transport, oxidative metabolism, and cellular stress response using genetic and metabolic assays. The primary focus of the AMD project is on generating environmental quantitative trait loci maps of human retina to identify causal variants and delineate their contribution to disease pathology.
Interventional Approaches for Restoring Vision: We are developing gene- and cell-based therapies for retinal neurodegenerative diseases, with a focus on Leber congenital amaurosis and retinitis pigmentosa. Gene therapy approaches are being designed for CEP290, RPGR and RP2 disease. We are also focusing on a pathway-based and integrated systems approaches to identify specific cellular targets for drug discovery. Retinal organoids from mouse models and from patient derived iPSCs are being developed, in combination with bioreactors and extracellular scaffold matrices, to create three-dimensional constructs for elucidating disease mechanisms and for small molecule screening. As part of our ongoing research, we have established genetic and genomic resources, mouse models, and reagents that are being shared with investigators worldwide.
Marchal C, Singh N, Batz Z, Advani J, Jaeger C, Corso-Díaz X, Swaroop A. High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci. Nature Communications 2022.
Campello L, Singh N, Advani J, Mondal AK, Corso-Diaz X, Swaroop A. Aging of the Retina: Molecular and Metabolic Turbulences and Potential Interventions. Annu Rev Vis Sci. 2021.
Brooks MJ, Chen HY, Kelley RA, Mondal AK, Nagashima K, De Val N, Li T, Chaitankar V, Swaroop A. Improved retinal organoid differentiation by modulating signaling pathways revealed by comparative transcriptome analyses with development in vivo. Stem Cell Reports. 2019;13(5):891-905.
Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, Chatterjee N, Swaroop A. Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. Nat Genet. 2019;51(4):606-610.
Corso-Diaz X, Jaeger C, Chaitankar V, Swaroop A. Epigenetic control of gene regulation during development and disease: A view from the retina. Prog Retin Eye Res. 2018;65:1-27.
Shimada H, Lu Q, Insinna-Kettenhofen C, Nagashima K, English MA, Semler EM, Mahgerefteh J, Cideciyan AV, Li T, Brooks BP, Gunay-Aygun M, Jacobson SG, Cogliati T, Westlake CJ, Swaroop A. In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. Cell Rep. 2017;20(2):384-396.
Kim J-W, Yang H-J, Oel AP, Brooks MJ, Jia L, Li W, Allison WT, Swaroop A. Recruitment of rod photoreceptors from short-wavelength-sensitive cones during the evolution of nocturnal vision in mammals. Dev Cell. 2016;37(6):520-532.