Anand Swaroop, Ph.D.
Retinal Development, Genetics, and Therapy Section
Building 6, Room 338
6 Center Drive
Bethesda, MD 20892-0610
Genetic and Epigenetic Regulation of Retinal Development and Aging. Our goals are to elucidate gene regulatory networks (GRNs) that guide differentiation of photoreceptor subtypes in the mouse and human retina and in retinal organoids derived from embryonic or induced pluripotent stem (iPS) cells. We are dissecting transcriptional control pathways and integrating transcriptome, epigenome and proteomic profiles from photoreceptors (and whole retina). As a prelude to understand 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 eQTL map 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 (LCA) and retinitis pigmentosa (RP). Gene therapy approaches are being designed for CEP290, RPGR and RP2 disease. We are also focusing on a pathway-based and integrated system’s approach 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 screenings.
As part of our ongoing research, we have established genetic and genomic resources, mouse models, and reagents that are being shared with investigators worldwide.
Dr. Swaroop's studies have primarily focused on regulation of photoreceptor development and genetic investigations of retinal and macular degeneration. He has trained over 500 students, interns and fellows. A number of his trainees hold faculty or scientist positions at institutions worldwide and in biomedical industry.
Dr. Swaroop has received many honors, including the Board of Director's award from The Foundation Fighting Blindness for outstanding research in 2006 and the Harrington Senior Scientific Award from Research to Prevent Blindness. In 2007, he got the Distinguished Faculty Lectureship Award of the University of Michigan Medical School for his research accomplishments. He was a recipient of the Bireswar Chakrabarti Memorial Oration Award in 2008 by the Indian Eye Research Group, inducted in the inaugural class of ARVO Fellows in 2009, and received the NEI Director's award in 2010. Dr. Swaroop received the prestigious Alcon Award for Outstanding Vision Research in 2011. In Feb 2012, he was selected by ARVO as a Gold Fellow for his service to the vision community. In 2013, he was honored by NIH Director's Ruth L. Kirschstein Award "For exemplary performance while demonstrating significant leadership, skill and ability in serving as a mentor." Dr. Swaroop was granted Prof. P.N. Chhuttani Chair as Distinguished Medical Scientist (visiting) at Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India, during 2015-2016.
Dr. Swaroop has published more than 300 peer-reviewed articles, invited chapters and reviews. He has delivered over 250 invited lectures worldwide. Dr. Swaroop is on the advisory and editorial boards, and routinely reviews manuscripts for Cell, PLoS and Nature journals, J Neurosci, PNAS, AJHG, HMG, IOVS, and Mol Vis, among others. He contributes to institutional committees for promotions and tenure and evaluates grants for several national and international funding agencies.
Kim JW, Yang HJ, Oel AP, Brooks MJ, Jia L, Plachetzki DC, 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):520-32.
Hoshino A, Ratnapriya R, Brooks MJ, Chaitankar V, Wilken MS, Zhang C, Starostik MR, Gieser L, La Torre A, Nishio M, Bates O, Walton A, Bermingham-McDonogh O, Glass IA, Wong ROL, Swaroop A, Reh TA. Molecular Anatomy of the Developing Human Retina. Dev Cell. 2017;43(6):763-779.e4.
Yu W, Mookherjee S, Chaitankar V, Hiriyanna S, Kim JW, Brooks M, Ataeijannati Y, Sun X, Dong L, Li T, Swaroop A, Wu Z. Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice. Nat Commun. 2017;8:14716.
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.
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.
Related Scientific Focus Areas
Genetics and Genomics
Molecular Biology and Biochemistry
This page was last updated on September 12th, 2019