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Claudio Punzo PhD

TitleAssociate Professor
InstitutionUMass Chan Medical School
DepartmentOphthalmology and Visual Sciences
AddressUMass Chan Medical School
55 Lake Avenue North, S3-212
Worcester MA 01655
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    Other Positions
    InstitutionT.H. Chan School of Medicine
    DepartmentGene Therapy Center

    InstitutionT.H. Chan School of Medicine

    InstitutionT.H. Chan School of Medicine
    DepartmentNeuroNexus Institute

    InstitutionT.H. Chan School of Medicine
    DepartmentOphthalmology and Visual Sciences

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentInterdisciplinary Graduate Program

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentMD/PhD Program

    InstitutionMorningside Graduate School of Biomedical Sciences
    DepartmentMillennium MD/PhD Program

    InstitutionMorningside Graduate School of Biomedical Sciences

    Collapse Biography 
    Collapse education and training
    University of Basel, Basel, , SwitzerlandBSCell Biology
    University of Basel, Basel, , SwitzerlandPHDCell Biololgy

    Collapse Overview 
    Collapse overview

    Lab web-page: www.umassmed.edu/punzolab


    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.


    Collapse 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.

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Seddon JM, De D, Casazza W, Cheng SY, Punzo C, Daly M, Zhou D, Coss SL, Atkinson JP, Yu CY. Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration. Front Genet. 2023; 14:1274743. PMID: 38348408.
    2. Cheng SY, Caiazzi J, Biscans A, Alterman JF, Echeverria D, McHugh N, Hassler M, Jolly S, Giguere D, Cipi J, Khvorova A, Punzo C. Single intravitreal administration of a tetravalent siRNA exhibits robust and efficient gene silencing in mouse and pig photoreceptors. Mol Ther Nucleic Acids. 2024 Mar 12; 35(1):102088. PMID: 38192611.
    3. Schultz A, Cheng SY, Kirchner E, Costello S, Miettinen H, Chaverra M, King C, George L, Zhao X, Narasimhan J, Weetall M, Slaugenhaupt S, Morini E, Punzo C, Lefcort F. Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators. Sci Rep. 2023 10 30; 13(1):18600. PMID: 37903840.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    4. Cheng SY, Caiazzi J, Biscans A, Alterman JF, Echeverria D, McHugh N, Hassler M, Jolly S, Giguere D, Cipi J, Khvorova A, Punzo C. Single intravitreal administration of a tetravalent siRNA exhibits robust and efficient gene silencing in rodent and swine photoreceptors. bioRxiv. 2023 Sep 22. PMID: 37790464.
    5. Schultz A, Cheng SY, Kirchner E, Costello S, Miettinen H, Chaverra M, King C, George L, Zhao X, Narasimhan J, Weetall M, Slaugenhaupt S, Morini E, Punzo C, Lefcort F. Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators. bioRxiv. 2023 May 24. PMID: 37293016.
    6. Cheng SY, Punzo C. Update on Viral Gene Therapy Clinical Trials for Retinal Diseases. Hum Gene Ther. 2022 09; 33(17-18):865-878. PMID: 36074935.
      Citations: 10     Fields:    Translation:HumansAnimals
    7. Huan T, Cheng SY, Tian B, Punzo C, Lin H, Daly M, Seddon JM. Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration. Ophthalmol Sci. 2023 Mar; 3(1):100206. PMID: 36275200.
    8. Wang Y, Punzo C, Ash JD, Lobanova ES. Tsc2 knockout counteracts ubiquitin-proteasome system insufficiency and delays photoreceptor loss in retinitis pigmentosa. Proc Natl Acad Sci U S A. 2022 03 15; 119(11):e2118479119. PMID: 35275792.
      Citations: 9     Fields:    Translation:AnimalsCells
    9. Cheng SY, Punzo C. Ocular Inflammation with Anti-Vascular Endothelial Growth Factor Treatments. Hum Gene Ther. 2021 Jul; 32(13-14):639-641. PMID: 34283642.
      Citations: 2     Fields:    Translation:Humans
    10. Cheng SY, Luo Y, Malachi A, Ko J, Su Q, Xie J, Tian B, Lin H, Ke X, Zheng Q, Tai PWL, Gao G, Punzo C. Low-Dose Recombinant Adeno-Associated Virus-Mediated Inhibition of Vascular Endothelial Growth Factor Can Treat Neovascular Pathologies Without Inducing Retinal Vasculitis. Hum Gene Ther. 2021 07; 32(13-14):649-666. PMID: 34182803.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    11. Cheng SY, Malachi A, Cipi J, Ma S, Brush RS, Agbaga MP, Punzo C. HK2 Mediated Glycolytic Metabolism in Mouse Photoreceptors Is Not Required to Cause Late Stage Age-Related Macular Degeneration-Like Pathologies. Biomolecules. 2021 06 11; 11(6). PMID: 34208233.
      Citations: 4     Fields:    Translation:AnimalsCells
    12. Cheng SY, Cipi J, Ma S, Hafler BP, Kanadia RN, Brush RS, Agbaga MP, Punzo C. Altered photoreceptor metabolism in mouse causes late stage age-related macular degeneration-like pathologies. Proc Natl Acad Sci U S A. 2020 06 09; 117(23):13094-13104. PMID: 32434914.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    13. Li H, Li Q, Dang K, Ma S, Cotton JL, Yang S, Zhu LJ, Deng AC, Ip YT, Johnson RL, Wu X, Punzo C, Mao J. YAP/TAZ Activation Drives Uveal Melanoma Initiation and Progression. Cell Rep. 2019 12 03; 29(10):3200-3211.e4. PMID: 31801083.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    14. Petit L, Ma S, Cipi J, Cheng SY, Zieger M, Hay N, Punzo C. Aerobic Glycolysis Is Essential for Normal Rod Function and Controls Secondary Cone Death in Retinitis Pigmentosa. Cell Rep. 2018 05 29; 23(9):2629-2642. PMID: 29847794.
      Citations: 62     Fields:    Translation:AnimalsCells
    15. Venkatesh A, Cheng SY, Punzo C. Loss of the cone-enriched caspase-7 does not affect secondary cone death in retinitis pigmentosa. Mol Vis. 2017; 23:944-951. PMID: 29296074.
      Citations: 4     Fields:    Translation:AnimalsCells
    16. Petit L, Ma S, Cheng SY, Gao G, Punzo C. Rod Outer Segment Development Influences AAV-Mediated Photoreceptor Transduction After Subretinal Injection. Hum Gene Ther. 2017 06; 28(6):464-481. PMID: 28510482.
      Citations: 14     Fields:    Translation:AnimalsCells
    17. Petit L, Punzo C. Gene therapy approaches for the treatment of retinal disorders. Discov Med. 2016 10; 22(121):221-229. PMID: 27875674.
      Citations: 5     Fields:    Translation:Humans
    18. Camacho ET, Punzo C, Wirkus SA. Quantifying the metabolic contribution to photoreceptor death in retinitis pigmentosa via a mathematical model. J Theor Biol. 2016 11 07; 408:75-87. PMID: 27519951.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    19. Petit L, Khanna H, Punzo C. Advances in Gene Therapy for Diseases of the Eye. Hum Gene Ther. 2016 08; 27(8):563-79. PMID: 27178388.
      Citations: 32     Fields:    Translation:HumansAnimals
    20. 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 08; 24(7):1247-57. PMID: 27117222.
      Citations: 64     Fields:    Translation:HumansAnimalsCells
    21. 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 01; 7(9):9620-33. PMID: 26883199.
      Citations: 20     Fields:    Translation:AnimalsCells
    22. Petit L, Punzo C. mTORC1 sustains vision in retinitis pigmentosa. Oncotarget. 2015 Jul 10; 6(19):16786-7. PMID: 26220206.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    23. Cepko C, Punzo C. Cell metabolism: Sugar for sight. Nature. 2015 Jun 25; 522(7557):428-9. PMID: 26108850.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    24. Ma S, Venkatesh A, Langellotto F, Le YZ, Hall MN, R?egg 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. PMID: 25887293.
      Citations: 18     Fields:    Translation:AnimalsCells
    25. Venkatesh A, Ma S, Le YZ, Hall MN, R?egg MA, Punzo C. Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice. J Clin Invest. 2015 Apr; 125(4):1446-58. PMID: 25798619.
      Citations: 83     Fields:    Translation:AnimalsCells
    26. 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. PMID: 25486194.
      Citations: 14     Fields:    Translation:AnimalsCells
    27. 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. PMID: 23408132.
      Citations: 21     Fields:    Translation:AnimalsCells
    28. Molnar T, Barabas P, Birnbaumer L, Punzo C, Kefalov V, Kri?aj D. Store-operated channels regulate intracellular calcium in mammalian rods. J Physiol. 2012 Aug 01; 590(15):3465-81. PMID: 22674725.
      Citations: 31     Fields:    Translation:AnimalsCells
    29. 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. PMID: 22543161.
      Citations: 72     Fields:    Translation:AnimalsCells
    30. 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. PMID: 22074929.
      Citations: 97     Fields:    Translation:HumansAnimals
    31. Huang W, Xing W, Ryskamp DA, Punzo C, Kri?aj 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. PMID: 21933672.
      Citations: 19     Fields:    Translation:AnimalsCells
    32. Kri?aj 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. PMID: 20801142.
      Citations: 10     Fields:    Translation:AnimalsCells
    33. 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. PMID: 19060896.
      Citations: 279     Fields:    Translation:AnimalsCells
    34. 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. PMID: 18987029.
      Citations: 11     Fields:    Translation:AnimalsCells
    35. 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 09; 105(36):13439-44. PMID: 18755899.
      Citations: 25     Fields:    Translation:AnimalsCells
    36. 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. PMID: 18351670.
      Citations: 17     Fields:    Translation:Animals
    37. 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 Jun 07; 8:153. PMID: 17555589.
      Citations: 37     Fields:    Translation:AnimalsCells
    38. 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. PMID: 17251487.
      Citations: 40     Fields:    Translation:AnimalsCells
    39. 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. PMID: 16823376.
      Citations: 65     Fields:    
    40. 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. PMID: 15253940.
      Citations: 21     Fields:    Translation:AnimalsCells
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