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    Last Name

    Claudio Punzo PhD

    TitleAssistant Professor
    InstitutionUniversity of Massachusetts Medical School
    AddressUniversity of Massachusetts Medical School
    368 Plantation Street, AS6-2041
    Worcester MA 01605-2324
      Other Positions
      InstitutionUMMS - School of Medicine
      DepartmentGene Therapy Center

      InstitutionUMMS - School of Medicine

      InstitutionUMMS - Graduate School of Biomedical Sciences
      DepartmentCell Biology

      InstitutionUMMS - Graduate School of Biomedical Sciences
      DepartmentInterdisciplinary Graduate Program

      InstitutionUMMS - Graduate School of Biomedical Sciences

      InstitutionUMMS - Graduate School of Biomedical Sciences
      DepartmentTranslational Science


        Lab web-page:


        Harvard Medical School, Boston, MA, USA
        Postdoctoral fellow, Laboratory of Dr. C.L. Cepko
        Biozentrum,University of Basel, Basel, Switzerland
        Doctor of Philosophy, Laboratory of Dr. W.J. Gehring
        University of Basel, Basel Switzerland
        Undergraduate studies, Mentored by Dr. W.J. Gehring

        Neuro-Degeneration in the Retina

        The vertebrate retina has highly specialized sensory neurons, the photoreceptors (PR), which serve to initiate the process of vision. Cone PRs are responsible for vision during the brighter light intensities of the day and mediate color vision. Rod PRs are 1000x more sensitive to light, and initiate vision in dim light. The light captured by PRs is converted into an electrical signal that is passed on to bipolar cells and then to ganglion cells, the output neurons of the retina, that project to the brain.

        Blindness is the inevitable end stage of neuro-degeneration in the retina. The two cell types in the retina that are associated with loss of vision in humans are either the ganglion cells or the PRs. Loss of ganglion cells results in Glaucoma. Loss PRs is associated with a large number of retinal degeneration (RD) diseases. Since PRs account for ~75% of all cells in the retina loss of PRs results always in sever RD.

        The research focus of my group is on photoreceptor metabolism and the signaling pathways that regulate photoreceptor metabolism. We study retinal degenerative diseases that affect cone photoreceptors, since cones are essential for color, daylight and high acuity vision in humans. However, because of the peculiar interdependence between rods and cones in humans and mouse we are also interested in rod photoreceptors. In particular, we are interested in how cell metabolism is controlled in both types of photoreceptors of healthy retinas and how cell metabolism adapts during diseases that cause photoreceptor loss. Another area of interest is how photoreceptor metabolism adapts during the process of aging, since aging is known to lead to a host of metabolic changes in the entire body. Additionally, metabolic disease conditions that affect the entire body such as diabetes and only secondarily cause retinal abnormalities such as diabetic retinopathy (DR) are also of interests.

        The reason why we are interested in understanding how photoreceptor metabolism is regulated is that photoreceptors are among the highest energy consuming cells in the human body. Two circumstances contribute to the fact that photoreceptors have such a high-energy demand. First, like all neurons photoreceptors need large quantities of ATP in order to re-equilibrate membrane potential. Second, photoreceptors are constantly growing cells yet they do not divide. Photoreceptors need to synthesize every day membranes and proteins they lose due to the shedding of their outer segments. The photoreceptor outer segment is so densely packed to optimize absorption of light photons, that the average lipid content of a photoreceptor is 15% of its cell mass compared to 1% for normal cells and each photoreceptor contains roughly 60pg of protein. Since photoreceptors shed 10% of their OS daily the lipid and protein content that needs to be re-synthesized amounts roughly to that of a cell division per day, suggesting that photoreceptors should have a metabolic profile similar to that of proliferating cells.

        One of the disease we are studying in the lab is Retinitis Pigmentosa (RP), which is a family of inherited RD that is untreatable and leads to blindness. The pathology is characterized by an initial loss of night vision due to the loss of rod PR, followed by a progressive loss of cone PRs. In many cases, the disease-causing allele is a gene exclusively expressed in rods; nonetheless, cones die too. There is no known form of RD in humans or mice where rods die, and cones survive. In contrast, mutations in cone-specific genes result only in cone death. Understanding this non-autonomous cone death is the key in designing therapeutic strategies. While the dependence of cones on rods plays an important role in RP it remains a fundamental question of retinal biology.

        Want to learn more about the Punzo Lab? Check out the lab-website.


        Rotation Projects


        We always welcome rotation students who are interested in learning more about the eye and the techniques the lab utilizes. Most rotation projects can be integrated into a Ph.D. thesis afterwards if the candidate desires to continue with this line of research. In my lab we use molecular biology, genetics, histology, virology and surgical procedures on mice to conduct our research. You will be working in an environment that is focused on translational research and gaining basic science knowledge on disease that affect vision in order to develop better therapeutic strategies to the currently available strategies. The goal of the lab is to move as quickly as possible from a basic science discovery to a therapeutic application. The basic science research the lab is conducting focuses around the role of metabolism and the Insulin/mTOR pathway in photoreceptors.

        Interested in a rotation? Email Dr. Punzo and ask if a project is currently available.

        selected publications
        List All   |   Timeline
        1. Camacho ET, Punzo C, Wirkus SA. Quantifying the metabolic contribution to photoreceptor death in retinitis pigmentosa via a mathematical model. J Theor Biol. 2016 Nov 7; 408:75-87.
          View in: PubMed
        2. Petit L, Khanna H, Punzo C. Advances in Gene Therapy for Diseases of the Eye. Hum Gene Ther. 2016 Aug; 27(8):563-79.
          View in: PubMed
        3. Choudhury SR, Fitzpatrick Z, Harris AF, Maitland SA, Ferreira JS, Zhang Y, Ma S, Sharma RB, Gray-Edwards HL, Johnson JA, Johnson AK, Alonso LC, Punzo C, Wagner KR, Maguire CA, Kotin RM, Martin DR, Sena-Esteves M. In Vivo Selection Yields AAV-B1 Capsid for Central Nervous System and Muscle Gene Therapy. Mol Ther. 2016 Aug; 24(7):1247-57.
          View in: PubMed
        4. Zieger M, Punzo C. Improved cell metabolism prolongs photoreceptor survival upon retinal-pigmented epithelium loss in the sodium iodate induced model of geographic atrophy. Oncotarget. 2016 Mar 1; 7(9):9620-33.
          View in: PubMed
        5. Petit L, Punzo C. mTORC1 sustains vision in retinitis pigmentosa. Oncotarget. 2015 Jul 10; 6(19):16786-7.
          View in: PubMed
        6. Cepko C, Punzo C. Cell metabolism: Sugar for sight. Nature. 2015 Jun 25; 522(7557):428-9.
          View in: PubMed
        7. Ma S, Venkatesh A, Langellotto F, Le YZ, Hall MN, Rüegg MA, Punzo C. Loss of mTOR signaling affects cone function, cone structure and expression of cone specific proteins without affecting cone survival. Exp Eye Res. 2015 Jun; 135:1-13.
          View in: PubMed
        8. Venkatesh A, Ma S, Le YZ, Hall MN, Rüegg MA, Punzo C. Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice. J Clin Invest. 2015 Apr; 125(4):1446-58.
          View in: PubMed
        9. Banday AR, Baumgartner M, Al Seesi S, Karunakaran DK, Venkatesh A, Congdon S, Lemoine C, Kilcollins AM, Mandoiu I, Punzo C, Kanadia RN. Replication-dependent histone genes are actively transcribed in differentiating and aging retinal neurons. Cell Cycle. 2014; 13(16):2526-41.
          View in: PubMed
        10. Venkatesh A, Ma S, Langellotto F, Gao G, Punzo C. Retinal gene delivery by rAAV and DNA electroporation. Curr Protoc Microbiol. 2013; Chapter 14:Unit 14D.4.
          View in: PubMed
        11. Molnar T, Barabas P, Birnbaumer L, Punzo C, Kefalov V, Križaj D. Store-operated channels regulate intracellular calcium in mammalian rods. J Physiol. 2012 Aug 1; 590(15):3465-81.
          View in: PubMed
        12. Hafler BP, Surzenko N, Beier KT, Punzo C, Trimarchi JM, Kong JH, Cepko CL. Transcription factor Olig2 defines subpopulations of retinal progenitor cells biased toward specific cell fates. Proc Natl Acad Sci U S A. 2012 May 15; 109(20):7882-7.
          View in: PubMed
        13. Punzo C, Xiong W, Cepko CL. Loss of daylight vision in retinal degeneration: are oxidative stress and metabolic dysregulation to blame? J Biol Chem. 2012 Jan 13; 287(3):1642-8.
          View in: PubMed
        14. Huang W, Xing W, Ryskamp DA, Punzo C, Križaj D. Localization and phenotype-specific expression of ryanodine calcium release channels in C57BL6 and DBA/2J mouse strains. Exp Eye Res. 2011 Nov; 93(5):700-9.
          View in: PubMed
        15. Križaj D, Huang W, Furukawa T, Punzo C, Xing W. Plasticity of TRPM1 expression and localization in the wild type and degenerating mouse retina. Vision Res. 2010 Nov 23; 50(23):2460-5.
          View in: PubMed
        16. Punzo C, Kornacker K, Cepko CL. Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa. Nat Neurosci. 2009 Jan; 12(1):44-52.
          View in: PubMed
        17. Kanadia RN, Clark VE, Punzo C, Trimarchi JM, Cepko CL. Temporal requirement of the alternative-splicing factor Sfrs1 for the survival of retinal neurons. Development. 2008 Dec; 135(23):3923-33.
          View in: PubMed
        18. Plaza S, Prince F, Adachi Y, Punzo C, Cribbs DL, Gehring WJ. Cross-regulatory protein-protein interactions between Hox and Pax transcription factors. Proc Natl Acad Sci U S A. 2008 Sep 9; 105(36):13439-44.
          View in: PubMed
        19. Punzo C, Cepko CL. Ultrasound-guided in utero injections allow studies of the development and function of the eye. Dev Dyn. 2008 Apr; 237(4):1034-42.
          View in: PubMed
        20. Liu F, Jenssen TK, Trimarchi J, Punzo C, Cepko CL, Ohno-Machado L, Hovig E, Kuo WP. Comparison of hybridization-based and sequencing-based gene expression technologies on biological replicates. BMC Genomics. 2007; 8:153.
          View in: PubMed
        21. Punzo C, Cepko C. Cellular responses to photoreceptor death in the rd1 mouse model of retinal degeneration. Invest Ophthalmol Vis Sci. 2007 Feb; 48(2):849-57.
          View in: PubMed
        22. Kuo WP, Liu F, Trimarchi J, Punzo C, Lombardi M, Sarang J, Whipple ME, Maysuria M, Serikawa K, Lee SY, McCrann D, Kang J, Shearstone JR, Burke J, Park DJ, Wang X, Rector TL, Ricciardi-Castagnoli P, Perrin S, Choi S, Bumgarner R, Kim JH, Short GF, Freeman MW, Seed B, Jensen R, Church GM, Hovig E, Cepko CL, Park P, Ohno-Machado L, Jenssen TK. A sequence-oriented comparison of gene expression measurements across different hybridization-based technologies. Nat Biotechnol. 2006 Jul; 24(7):832-40.
          View in: PubMed
        23. Punzo C, Plaza S, Seimiya M, Schnupf P, Kurata S, Jaeger J, Gehring WJ. Functional divergence between eyeless and twin of eyeless in Drosophila melanogaster. Development. 2004 Aug; 131(16):3943-53.
          View in: PubMed
        24. Punzo C, Seimiya M, Flister S, Gehring WJ, Plaza S. Differential interactions of eyeless and twin of eyeless with the sine oculis enhancer. Development. 2002 Feb; 129(3):625-34.
          View in: PubMed
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