Neurobiology Neurodegeneration & Repair Laboratory (N-NRL)
Anand Swaroop, Ph.D.
Lab Chief: Anand Swaroop, Ph.D..
Building 6, Room 338
6 Center Drive
Bethesda, Maryland 20892-0610
Phone: (301) 435-5754
Phone: (301) 435-6149
Fax: (301) 480-9917
Mission Statement
Neurobiology Neurodegeneration & Repair Laboratory (N-NRL) was established recently with a goal to develop novel treatment modalities for blinding retinal diseases based on fundamental understanding of genetic defects and/or biological pathways underlying differentiation, homeostasis, aging and disease pathogenesis.
Research Overview
The process of vision begins in the retina. In humans, retina supplies almost 30% of the sensory input to the brain. Any damage to retinal neurons can lead to devastating consequences, including the loss of vision. Retinal and macular diseases are a major cause of visual impairment and affect the quality of life for millions worldwide. The basic premise guiding the research of this laboratory 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, this laboratory wishes to significantly advance our understanding of several fundamentally important and interrelated biological processes and help pursue clinical interventions that utilize 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 can we repair the damage or treat the degenerative disease.
We have specifically identified the following focus areas of research:
- Differentiation of Retinal Neurons from Progenitors or Stem Cells
- Synaptogenesis in the Retina
- Gene Regulatory Networks in Retinal Differentiation and Disease
- Intracellular Trafficking and Ciliopathies
- Genes and Pathways underlying Retinal Degenerative Diseases
- Genetic Variations and Functional Consequences in Retinal Aging, Age-related Macular Degeneration, and Diabetic Retinopathy
- Novel Treatment Paradigms that originate from these Investigations
The basic and clinical research environment at NIH provides unique opportunities to carry out innovative multi-disciplinary research that is critical for solving complex problems in biology and medicine. Our approach will be to build on strong and creative individual-specific projects yet tackle complex questions in retinal neurobiology and degeneration, which should lead to new cell, gene or small molecule based therapeutic paradigms. As retina is a relatively less complex and perhaps the most approachable part of the central nervous system, our research will complement the existing neuroscience programs at NIH.
Neurobiology Neurodegeneration & Repair Laboratory (N-NRL), Staff
Structure
The Chief of the Laboratory is Senior Investigator Dr. Anand Swaroop.
We expect to recruit several tenure-track investigators in the above focus areas over the next few years.
We encourage outstanding young scientists in all fields of biology (particularly computational and systems biology) to contact us for possible opportunities at NIH.
NNRL Structure
| Title | Name |
|---|---|
| Office of the Chief | Anand Swaroop, Ph.D. |
| Retinal Development and Genetics Section | Anand Swaroop, Ph.D. |
| Retinal Cell Biology and Degeneration Section | Tiansen Li, Ph.D. |
| Gene Therapy Unit | Peter Colosi, Ph.D. |
Office of the Chief
| Name | Title | |
|---|---|---|
| Anand Swaroop, Ph.D. |
Chief, Senior Investigator | swaroopa@nei.nih.gov |
| Lucia Lawrence | Administrative Lab Manager | lawrencel@nei.nih.gov |
| Sharyn Ferrara | Administrative Lab Manager at UM (Contractor) | ferraras@nei.nih.gov |
| Dwight Stambolian, M.D., Ph.D. | Visiting Professor on sabbatical from University of Pennsylvania | stamboliande@nei.nih.gov |
| Monika Buraczynska, M.D., Ph.D. | Visiting Professor, University of Lublin, Poland | buraczynskamj@mail.nih.gov |
| Lori Bell | Contractor – Purchasing | belllori@nei.nih.gov |
| Matthew Brooks | Biologist – Genomic technologies | brooksma@nei.nih.gov |
| Tiziana Cogliati, Ph.D. | Contractor – Scientific administration | cogliatitp@nei.nih.gov |
| Linn Gieser | Biologist – Molecular biology | gieserl@nei.nih.gov |
| Anastasia Krasnoperova | Contractor – Mouse Management Support | krasnoperovaa@nei.nih.gov |
| Jacob Nellissery, Ph.D. | Biologist – Proteomics and metabolism | nellisseryj@nei.nih.gov |
| Harsha K. Rajasimha, Ph.D. | Bioinformatics Contractor – Bioinformatics | rajasimhah@nei.nih.gov |
Retinal Development and Genetics Section
| Name | Title | |
|---|---|---|
| Anand Swaroop, Ph.D. | Chief, Senior Investigator | swaroopa@nei.nih.gov |
| Jessica Chang | HHMI Fellow - MD student at Duke Medical School | changjr@od.nih.gov |
| Radu Cojocaru, Ph.D. | Postdoctoral Fellow | cojocarur@nei.nih.gov |
| James Friedman, Ph.D. | Postdoctoral Fellow | friedmanja@nei.nih.gov |
| Norimoto Gotoh, M.D., Ph.D. | Postdoctoral Fellow | gotohn@nei.nih.gov |
| Hong Hao, Ph.D. | Postdoctoral Fellow | haoh@nei.nih.gov |
| Atsuhiro Kanda, Ph.D. | Postdoctoral Fellow | kandaa@nei.nih.gov |
| Marie-Audrey Kautzmann | Graduate Student – University of Strassburg, France | kautzmannma@nei.nih.gov |
| Douglas Kim, Ph.D. | Postdoctoral Fellow | douglas.kim@nih.gov |
| Daniel Krauth | IRTA Fellow | krauthd@nei.nih.gov |
| Kevin Lazo | IRTA Fellow | lazokg@mail.nih.gov |
| Chunqiao Liu, Ph.D. | Postdoctoral Fellow | cqliu@nei.nih.gov |
| Yide Mi | Contractor - Mouse Management Support | yidem@mail.nih.gov |
| Igor Nasonkin, Ph.D. | Postdoctoral Fellow | nasonkini@nei.nih.gov |
| Rivka Rachel, M.D., Ph.D. | Staff Scientist | rachelr@nei.nih.gov |
| Jerome Roger, Ph.D. | Postdoctoral Fellow | rogerj@nei.nih.gov |
| Shobi Veleri, Ph.D. | Postdoctoral Fellow | veleris@nei.nih.gov |
| Sharda P. Yadav, Ph.D. | Postdoctoral Fellow | yadavsh@nei.nih.gov |
| Samelia Okpodu | Graduate Student – Howard University Washington, DC. | |
| Brian Lee | IRTA Fellow | |
| Hirva Bakeri | IRTA Fellow | |
| Keerthi Ranganath | IRTA Fellow |
Retinal Cell Biology & Degeneration Section
| Name | Title | |
|---|---|---|
| Tiansen Li, Ph.D. |
Chief |
Gene Therapy Unit
| Name | Title | |
|---|---|---|
| Peter Colosi, Ph.D. |
Chief | colosip@mail.nih.gov |
| Zhijian Wu, Ph.D. | Staff Scientist | wuzh@mail.nih.gov |
| Hogyan Yang , Ph.D., M.D. | Contractor – Biologist | hoyang@mail.nih.gov |
| Kwan-Ho Chung, Ph.D. | Postdoctoral Fellow | chungk@mail.nih.gov |
Selected Publications
2009
- Edwards AO, Swaroop A, Seddon JM: Geographic atrophy in age-related macular degeneration and TLR3. N Engl J Med. 360:2254-2255, 2009. [PubMed]
- Nasonkin I, Cogliati T, Swaroop A: Photoreceptor development: Early steps/fate. in Encyclopedia of the Eye (eds. T. Reh and J. Besharse). Elsevier. 2010. In press. BOOK
- Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A*, Katsanis N*: A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 41:739-745, 2009. [* co-corresponding authors] [PubMed]
- Swaroop A, Chew EY, Bowes Rickman C, Abecasis GR: Unraveling a multifactorial late-onset disease: From genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genom Human Genet. April 29, 2009. [Epub ahead of print] PMID: 19405847. Free Access to Annual Review article
- Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HHH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A: Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 84:792-800, 2009. [PubMed]
2008
- Iannaccone A, Othman MI, Cantrell AD, Jennings BJ, Branham K, Swaroop A: Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. Adv Exp Med Biol. 613:221-227, 2008. [PubMed]
- He S, Parapuram SK, Hurd TW, Behnam B, Margolis B, Swaroop A, Khanna H: Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res. 48:366-376, 2008. [PubMed]
- Oh E, Cheng H, Hao H, Jia L, Khan NW, Swaroop A: Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res. 1236:16-29, 2008. [PubMed]
- Parapuram S, Swaroop A: Mouse models, microarrays and genetic networks in retinal development and degenerative disease. In Eye, Retina, and Visual System of the Mouse (Chalupa LM and Williams RW, eds), MIT Press, Cambridge, MA. pp. 675-683, 2008. BOOK
- Kanda A, Abecasis G, Swaroop A: Inflammation in the pathogenesis of age-related macular degeneration. (Editorial) Br J Ophthalmol. 92:448-450, 2008. [PubMed]
- Siffroi-Fernandez S, Felder-Schmittbuhl M, Khanna H, Swaroop A, Hicks D. FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro. Invest Ophthalmol Vis Sci. 49:1694-1704, 2008. [PubMed]
- Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell 15:187-197, 2008. [PubMed]
2007
- Swaroop A, Branham KEH, Chen W, Abecasis G: Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet. 16 Spec No 2:R174-82, 2007. [PubMed]
- Kanda A, Chen W, Othman M, Branham KEH, Brooks M, Khanna R, He S, Lyons R, Abecasis GR*, Swaroop A*: A variant of mitochondrial protein LOC387715, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci. USA. 104:16227-16232, 2007. [PubMed]
- McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A*, Martens JR*: Hypomorphic CEP290/NPHP6 mutations result in anosmia due to the loss of G-proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci. USA. 104:15917-15922, 2007. [PubMed]
- Oh ECT, Khan N, Novelli E, Khanna H, Strettoi E, Swaroop A: Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci USA 104:1679-1684, 2007. [Cover] [PubMed]
- Kanda A, Friedman JF, Nishiguchi KM, Swaroop A: Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Hum Mutat. 28:589-598, 2007. [PubMed]
- Raven M, Oh E, Swaroop A, Reese B: Afferent control of horizontal cell morphology revealed by genetic re-specification of rods and cones. J Neurosci. 27:3540-3547, 2007. [PubMed]
- Trager EH, Khanna R, Marrs A, Siden L, Branham K, Swaroop A, Richards JR: Madeline 2.0 PDE: A new program for local and web-based pedigree drawing. Bioinformatics. 23:1854-1856, 2007. [PubMed]
- Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EAM, He S, Chang B, Stone EM and Swaroop A: Centrosomal ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat. 28:1074-1083, 2007. [PubMed]
- Suzuki T, Akimoto M, Imai H, Ueda Y, Mandai M, Yoshimura N, Swaroop A, Takahashi M: Chondroitinase ABC treatment enhances synaptogenesis between transplant and host neurons in a mouse model of retinal degeneration. Cell Transplant. 16:493-503, 2007. [PubMed]
- Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, El-Aziz MAM, Prescott DQ, Parapuram S, Bickmore WA, Munro PMG, Gal A, Hamel C, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS: Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular RPE atrophy. Am J Hum Genet. 81:1098-1103, 2007. [PubMed]
