Retinal Development, Genetics and Therapy Section

Name Title E-mail
Anand Swaroop, Ph.D. Senior Investigator and Lab Chief
Ashley Parker Postbaccalaureate IRTA
Bibhudatta Mishra, Ph.D. Postdoctoral Fellow
Christie Campla Graduate Student (OXCAM-NIH Program)
Csilla Lazar Graduate Student—GPP (Babes-Bolyai Univ., Romania)
David Fernandez-Fidalgo Postbaccalaureate IRTA
Gokhan Karakulah, Ph.D. Postdoctoral Fellow
Hiroko Ishii, Ph.D. Postdoctoral Fellow
Holly Chen, Ph.D. Postdoctoral Fellow
Hyun-Jin Yang, Ph.D. Postdoctoral Fellow
Jacklyn Mahgerefteh Postbaccalaureate IRTA
Jessica Cooke, Ph.D. Postdoctoral Fellow
Jung-Woong Kim, Ph.D. Postdoctoral Fellow
Juthaporn Assawachananont Graduate Student—GPP (RIKEN, Japan)
Keshav Kooragayala Postbaccalaureate IRTA
Koray Kaya, Ph.D. Postdoctoral Fellow
Kristen Mollura Postbaccalaureate IRTA
Lisa Roberts Graduate Student, (Univ. of Cape Town, South Africa)
Lina Zelinger, Ph.D. Postdoctoral Fellow
Luyi Adesanya Postbaccalaureate IRTA
Mrinal Dewanjee, Ph.D. Emeritus Scientist—Volunteer
Neel Sharma, Ph.D. Postdoctoral Fellow
Passley Hargrove Graduate Student—GPP (George Washington Univ.)
Rinki Ratnapryia, Ph.D. Postdoctoral Fellow
Rossukon Kaewkhaw, Ph.D. Postdoctoral Fellow
Sharda Yadav, Ph.D. Postdoctoral Fellow
Shobi Veleri, Ph.D. Postdoctoral Fellow
Soo Young Kim, Ph.D. Postdoctoral Fellow
Teresa Longo Postbaccalaureate IRTA
Thad Whitaker Graduate Student—GPP (Univ. of Texas)
Tiziana Cogliati, Ph.D. Staff Scientist
Vijender Chaitankar, Ph.D. Postdoctoral Fellow

Current Research

The eye is our window to the world and to the brain. The process of vision begins in the retina and in humans, the retina supplies almost 30% of the sensory input to the brain. Any damage to retinal neurons can lead to devastating consequences, including loss of vision. Retinal and macular diseases are a major cause of visual impairment and affect the quality of life of millions worldwide. The basic premise guiding research of the Retinal Development, Genetics & Therapy Section is that clinical manifestations of disease result from perturbations in normal cellular behavior and adaptive changes to genetic variants/mutations interacting with environmental factors. With a focus on the retina, our laboratory wishes to advance our understanding of several fundamentally important and interrelated biological processes and help pursue clinical interventions that exploit these advances. In particular, we seek to understand: (1) how neurons differentiate from neuroepithelial progenitors (or stem cells); (2) how these neurons form functional synaptic circuits; (3) how neuronal function is accomplished in the normal retina and how it is compromised during aging and in disease conditions; and (4) how we can repair the damage or treat the degenerative disease.

The following four “themes” encompass the many projects that we are developing in our lab:

Regulatory networks guiding retinal development, homeostasis and aging - One of our major efforts is to elucidate gene regulatory networks that guide differentiation of photoreceptor subtypes from retinal progenitor cells in vivo in the mouse retina and in vitro using human and mouse-derived embryonic (ESCs) and induced pluripotent stem cells (iPSCs). We are also focusing on the identification of molecules that control the specificity of photoreceptor synapse formation. Our work extends to the study of gene networks underlying photoreceptor homeostasis and aging. We apply cutting-edge genomic technologies (e.g., Next Generation Sequencing) to perform whole genome expression profiles, transcription factor binding and epigenetic studies.

Synaptic circuit formation in the retina

Genetic basis of human retinal disease—The genetic component of our laboratory is dedicated to the identification of genetic defects in inherited retinal degenerative diseases and genetic susceptibility variants associated with common multifactorial diseases (age-related macular degeneration, AMD, and diabetic retinopathy). We combine whole exome sequencing, targeted chip genotyping and well-established computational workflows for new disease gene discovery. We pursue the study of candidate genes to delineate molecular pathways leading to retinal pathology, focusing on retinal/macular degenerative diseases and on AMD. We take advantage of an extended colony of mouse models of retinal disease, zebrafish mutants, and we develop in vitro disease models using patient-derived iPSCs.

Treatment paradigms for retinal diseases—The ultimate goal of our laboratory is to develop treatment paradigms for retinal and macular degenerative diseases (specifically those caused by mutations in CEP290, RPGR and RP2), using a comprehensive set of approaches including pluripotent stem cells (ESCs and iPSCs), small molecules against specific gene or pathway-based targets, and gene replacement using viral vectors.

Selected Publications


  • Veleri S, Manjunath SH, Fariss RN, May-Simera H, Brooks M, Foskett TA, Gao C, Longo TA, Liu P, Nagashima K, Rachel RA, Li T, Dong L, Swaroop A. Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Nat Commun. 2014 Jun 20;5:4207.
  • Ratnapriya R, Swaroop A. et al. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration Hum Mol Genet. 2014 Jun 4. pii: ddu276.
  • Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A. Age-Related Macular Degeneration: Genetics and Biology Coming Together. Annu Rev Genomics Hum Genet. 2014 Apr 16.
  • Hao H, Veleri S, Sun B, Kim DS, Keeley PW, Kim JW, Yang HJ, Yadav SP, Manjunath SH, Sood R, Liu P, Reese BE, Swaroop A. Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. Hum Mol Genet. 2014 Apr 15.
  • Yadav SP, Hao H, Yang HJ, Kautzmann MA, Brooks M, Nellissery J, Klocke B, Seifert M, Swaroop A. The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression. Hum Mol Genet. 2014 Apr 15;23(8):2132-44.
  • Wang C, Zhan X, Bragg-Gresham J, Kang HM, Stambolian D, Chew EY, Branham KE, Heckenlively J; FUSION Study, Fulton R, Wilson RK, Mardis ER, Lin X, Swaroop A, Zöllner S, Abecasis GR. Ancestry estimation and control of population stratification for sequence-based association studies. Nat Genet. 2014 Apr;46(4):409-15.


  • Zhan, X., et al., Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet, 2013. 45(11): p. 1375-9.
  • Yadav, S.P., et al., The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression. Hum Mol Genet, 2013.
  • Swaroop, A. and P.A. Sieving, The golden era of ocular disease gene discovery: race to the finish. Clin Genet, 2013. 84(2): p. 99-101.
  • Ratnapriya, R. and A. Swaroop, Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med, 2013. 5(9): p. 84.
  • Nasonkin, I.O., et al., Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis. Development, 2013. 140(6): p. 1330-41.
  • Liu, H., et al., An isoform of retinoid-related orphan receptor beta directs differentiation of retinal amacrine and horizontal interneurons. Nat Commun, 2013. 4: p. 1813.
  • Liu, C., et al., Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis. Hum Mol Genet, 2013. 22(11): p. 2234-46.
  • Keeley, P.W., et al., Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells. J Neurosci, 2013. 33(45): p. 17847-62.
  • Homma, K., et al., Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors. Stem Cells, 2013. 31(6): p. 1149-59.
  • Fritsche, L.G., et al., Seven new loci associated with age-related macular degeneration. Nat Genet, 2013. 45(4): p. 433-9, 439e1-2.
  • Roger, J.E., et al., Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina. J Neurosci, 2012. 32(2): p. 528-41.


  • Rachel, R.A., et al., Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest, 2012. 122(4): p. 1233-45.
  • Priya, R.R., et al., Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery. Methods Mol Biol, 2012. 884: p. 335-51.
  • Liu, C., et al., Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. Hum Mol Genet, 2012. 21(8): p. 1848-60.
  • Kandpal, R.P., et al., Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugs. Mol Vis, 2012. 18: p. 1123-46.
  • Hao, H., et al., Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS Genet, 2012. 8(4): p. e1002649.
  • Brooks, M.J., H.K. Rajasimha, and A. Swaroop, Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNA. Methods Mol Biol, 2012. 884: p. 319-34.
  • Branham, K., et al., Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci, 2012. 53(13): p. 8232-7.
  • Beltran, W.A., et al., Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A, 2012. 109(6): p. 2132-7.


  • Ng, L., et al., Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal development. J Neurosci, 2011. 31(31): p. 11118-25.
  • Kautzmann M.A., et al., Combinatorial regulation of photoreceptor differentiation factor gene nrl, revealed by in vivo promoter analysis. J Biol Chem. 2011 Jun 14. [Epub ahead of print] PubMed
  • Hao, H., et al., The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter. J Biol Chem, 2011. 286(40): p. 34893-902.
  • Cideciyan, A.V., et al., Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet, 2011. 20(7): p. 1411-23.
  • Cheng, H., et al., Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors. Hum Mol Genet, 2011. 20(21): p. 4102-15.
  • Brooks, M.J., et al., Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes. Mol Vis, 2011. 17: p. 3034-54.Swaroop, A., D. Kim, and D. Forrest, Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina. Nat Rev Neurosci, 2010. 11(8): p. 563-76.


  • Parapuram, S.K., et al., Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases. PLoS One, 2010. 5(11): p. e13885.
  • Friedman, J.S., et al., Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proc Natl Acad Sci U S A, 2010. 107(35): p. 15523-8.
  • Chen, W., et al., Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A, 2010. 107(16): p. 7401-6
  • Baratz, K.H., et al., E2-2 protein and Fuchs’s corneal dystrophy. N Engl J Med, 2010. 363(11): p. 1016-24.

Journal Covers

Last Reviewed: 
December 2014