Joseph C. Corbo, MD, PhD

Joseph C. Corbo, MD, PhD

Professor, Pathology & Immunology


  • Neuropathology

Additional Titles

  • Professor, Genetics
  • Professor, Ophthamology and Visual Sciences


  • PhD, Biology: U.C. San Diego, La Jolla, CA (1997)
  • Medical Degree: U.C. San Diego, La Jolla, CA (1999)
  • Resident in Anatomic Pathology: Brigham and Women’s Hospital, Boston, MA (2001)
  • Clinical Fellow in Neuropathology: Brigham and Women’s Hospital, Boston, MA (2003)
  • Research Post-doctoral Fellow, Department of Genetics: Harvard Medical School, Boston, MA (2005)

Board Certifications

  • Neuropathology: Board Certified
  • Anatomic Pathology: Board Certified


  • Japan Society for Promotion of Science, short-term fellowship (Kyoto, Japan), 1997
  • Medical Scientist Training Program, U. C. San Diego, 1992 – 1999
  • Regents Scholarship, University of California, 1991
  • Lucille P. Markey Charitable Trust Fellowship, 1992 – 1996
  • Firestone Medal for Outstanding Undergraduate Honors Thesis, Stanford University, 1990
  • Award for Academic Excellence in the Freshman Year, Stanford University, 1987

Clinical Interests

  • Neuropathology

Research Interests

We are poised on the threshold of a new era in medicine in which whole-genome sequencing will be a clinical reality. One of our lab’s major goals is to leverage this revolution in sequencing technology to predict and prevent disease. Up to now, our approach has been to elucidate the architecture of the transcriptional networks of the retina, with a particular focus on photoreceptors. We utilize this knowledge to build new technologies for mapping genotype onto phenotype and to devise cellular reprogramming strategies and optogenetic approaches to treat retinal disease. These translational strategies for retinal disease are complemented by other studies in the lab that focus on the basic biology of photoreceptors. Our research is strongly interdisciplinary and collaborative, with current projects that lie at the intersection of photoreceptor biology with chemistry and physics. By combining both basic and translational approaches, our lab aims to achieve a systems-level understanding of the development, diseases, function, evolution, and diversity of photoreceptors, and to extend this approach to other organ systems.

Selected Publications

PubMed Search

Kramlinger, V.M., Nagy, L.D., Fujiwara, R., Johnson, K.M., Phan, T.T.N., Enright, J.M., Toomey, M.B., Corbo J.C., and Guengerich, F.P.(2016) “Human cytochrome P450 27C1 catalyzes 3,4-desaturation of retinoids”, FEBS Letters, In press.
 Lopes, R.J., Johnson, J.D., Toomey, M.B., Ferreira, M.S., Araujo, P.M., Melo-Ferreira, J., Andersson, L., Hill, G.E.*, Corbo, J.C.*, Carneiro, M.* (2016) “Genetic basis for red coloration in birds”, Current Biology, In press. *co-corresponding authors
 Shen S.Q., Myers C.A., Hughes A.E.O., Byrne L.C., Flannery J.G., and Corbo J.C. (2016) “Massively parallel cis-regulatory analysis in the mammalian central nervous system” Genome Research 26: 238-55. PMID: 26576614.
 Xue, Y., Shen, S.Q., Jui, J., Rupp, A.C., Byrne, L.C., Hattar, S., Flannery, J.G., Corbo, J.C., and Kefalov, V.J. (2015) “CRALBP supports the mammalian retinal visual cycle and cone vision. J Clin Invest. 125: 727-38. PMID: 25607845.
Enright, J.M., Lawrence, K.A., Hadzic, T., and Corbo, J.C. (2015) “Transcriptome profiling of developing photoreceptor subtypes reveals candidate genes involved in avian photoreceptor diversification”, J Comp Neurol. 523: 649-68. PMID: 25349106.
 Shen, S.Q., Turro, E., and Corbo, J.C. (2014) “Hybrid Mice Reveal Parent-of-Origin and Cis– and Trans-Regulatory Effects in the Retina. PLoS One. 9: e109382. PMID: 25340786.
 Wang JS, Nymark S, Frederiksen R, Estevez ME, Shen SQ, Corbo JC, Cornwall MC, Kefalov VJ. (2014) “Chromophore supply rate-limits mammalian photoreceptor dark adaptation”, J. Neurosci. 34: 11212-21. PMID: 25143602.
 Jiao, Y, Lau, T., Hatzikirou, H., Meyer-Hermann, M., Corbo, J.C., and Torquato, S. (2014) “Avian photoreceptor patterns represent a disordered hyperuniform solution
 Rohatgi, A., Corbo, J.C., Monte, K., Higgs, S., Vanlandingham, D.L., Kardon, G., and Lenschow, D.J. (2013) “Infection of myofibers contributes to the increased pathogenicity during infection with an epidemic strain of Chikungunya Virus”, J. Virol. [Epub ahead of print]. PMID: 24335291.
 White, M.A., Myers, C.A., Corbo, J.C., and Cohen, B.A. (2013) “Massively parallel in vivo enhancer assay reveals that highly local features determine the cis-regulatory function of ChIP-seq peaks”, Proc Natl Acad Sci U S A. 110:11952-7. PMID: 23818646.
 Montana, C.L., Kolesnikov, A.V., Shen, S.Q., Myers, C.A., Kefalov, V.J. and Corbo, J.C., (2013) “Reprogramming of adult rod photoreceptors prevents retinal degeneration”, Proc Natl Acad Sci U S A, 110: 1732-7. PMID: 23319618.
 Montana, C.L., Myers, C.A., and Corbo, J.C., (2013) “Quantifying the activity of cis-regulatory elements in the mouse retina by explant electroporation”, Methods Mol. Biol. 935: 329-40. PMID: 23150379.
 Kwasnieski, J.C., Mogno, I., Myers, C.A., Corbo, J.C.* and Cohen, B.A.*, (2012) “Complex Effects of Nucleotide Variants in a Mammalian cis-Regulatory Element”, Proc Natl Acad Sci U S A, 109: 19498-503. PMID: 23129659. *co-corresponding authors.
 Donovan, S.L. and Corbo, J.C. (2012), “Retinal horizontal cells lacking Rb1 sustain persistent DNA damage and survive as polyploidy giant cells”, Mol. Biol. Cell. 23: 4362-72. PMID: 23015754.
 Lincoff, N.S., Chung, C., Balos, L., Corbo, J.C. and Sharma, A. (2012), “Combing the globe for terrorism”, J. Neuroophthalmol., 32: 82-85. PMID: 22330854.
 Montana, C.L., Lawrence, K.A., Williams, N.L., Nicholas M. Tran, N.M., Peng, G.-H., Chen, S. and Corbo, J.C. (2011), “Transcriptional regulation of neural retina leucine zipper (Nrl), a photoreceptor cell fate determinant “, J Biol Chem. 286: 36921-21. PMID: 21865162.
 Yoon, M.K., Sharma, A., Corbo, J. and McCulley, T.J. (2011), “Progressive aphasia and vision loss in a teen-aged girl”, J. Neuroophthalmol., 31: 279-284. PMID: 21857191.
 Özgül, R.K., Siemiatkowska, A.M., Yücel, D., Myers, C.A., …and Corbo J.C. (2011) “Exome Sequencing and Cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa”, Am. J. Hum. Genet., 89: 253-264. PMID: 21835304.
Montana, C.L., Myers, C.A. and Corbo, J.C. (2011), “Quantifying the activity of cis-regulatory elements in the mouse retina by explant electroporation “, J. Vis. Exp., (52) pii: 2821. PMID: 21730952.
 Friedrich, U., Myers, C.A., Fritsche, L.G., Milenkovich, A., Wolf, A., Corbo, J.C. and Weber, B.H.F. (2011), “Risk and non risk associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency”, Hum. Mol. Genet., 20: 1387-99. PMID: 21252205.
 Liu, Z., Turkoz, A., Jackson, E.N., Corbo, J.C., Engelbach, J.A., Garbow, J.R., Piwnica-Worms, D.R. and Kopan, R. (2011), “Notch1 loss of heterozygosity causes vascular tumors and lethal hemorrhage in mice”, J. Clin. Invest., 121: 800-8. PMID: 21266774.
 Langmann, T., Di Gioia, S.A., Rau, I., Stohr, H., Maksimovic, N.S., Corbo, J.C., Renner, A.B., Zrenner, E., Kumaramanickavel, G., Karlstetter, M., Arsenijevic, Y., Weber, B.H., Gal, A. and Rivolta, C. (2010) “Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa”, Am. J. Hum. Genet., 87: 376-81, PMID: 20705278.
Corbo, J.C., Lawrence, K.A., Karlstetter, M., Myers, C.A., Abdelaziz, M., Dirkes, W., Weigelt, K., Seifert, M., Benes, V., Fritsche, L.G., Weber, B.H.F. and Langmann, T. (2010) “CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors”, Genome Res. 20:1512-25. PMID: 20693478.
Lee, J.W., Myers, C.A., Williams, N., Abdelaziz, M. and Corbo, J.C. (2010) “Quantitative fine-tuning of photoreceptor cis-regulatory elements via affinity modulation of transcription factor binding sites”, Gene Ther. 17:1390-9. PMID: 20463752.
Kram, Y., Mantey, S. and Corbo, J.C. (2010) “Avian cone photoreceptors tile the retina as five independent, self-organizing mosaics”, PLoS ONE 5:e8992, PMID: 20126550.
Corbo, J.C. (2008) “The role of cis-regulatory elements in the design of gene therapy vectors for inherited blindness”, Expert Opin Biol Ther. 8:599-608, PMID: 18407764.
 Montana, C.L. and Corbo, J.C. (2008) “Inherited diseases of photoreceptors and prospects for gene therapy”, Pharmacogenomics, 9: 335-347, PMID: 18303969.
 Hsiau, T.H.-C., Diaconu, C., Myers, C.A., Lee, J., Cepko, C.L., and Corbo, J.C. (2007) “The cis-regulatory logic of the mammalian photoreceptor transcriptional network”, PLoS ONE, 7: e643, PMID: 17653270.
Corbo, J.C., Myers, C. A., Lawrence, K.A., Jadhav, A.P. and Cepko, C.L. (2007) “A typology of photoreceptor gene expression patterns in the mouse”, Proc Natl Acad Sci U S A, 104: 12069-74, PMID: 17620597.

Billie Charlton
BJCIH, Room 3407