Norann A. Zaghloul
- BA (1999) Johns Hopkins University
- MS (2001) George Washington University
- PhD (2006) George Washington University
- Post-Doc Fellowship (2010) Johns Hopkins University
Our research focuses on understanding the function of genes that cause complex metabolic phenotypes, such as diabetes and obesity. To investigate this problem, we are pursuing two lines of questioning:
Functional assessment of genes associated with common, complex disorders: Using the zebrafish system and cell models, we are investigating how common variants in disease-associated genes produce metabolic phenotypes. We use targeted disruption of gene expression in zebrafish embryos or cultured cell lines as well as addition of environmental factors, such as high fat diet, to understand what aspects of disease are regulated by susceptibility genes. Our goal is to understand how genetic variants contribute to disease risk and how that contribution is exacerbated in the presence of environmental triggers.
Investigation of rare disorders characterized by obesity and other related features: Disorders that are caused by defects in primary cilia (ciliopathies) display obesity and other metabolic syndrome defects. To understand this, we are investigating how ciliopathy genes contribute to developmental defects in organ systems – such as pancreas and hypothalamus - that might underlie obesity and diabetes. By focusing on such defects in the context of ciliopathies, we hope to understand the pathways that contribute to these phenotypes and shed light onto other more common diseases with similar features.
Lab Techniques and Equipment:
Our lab utilizes zebrafish and cell culture techniques.
- Kenyon, K.L., Zaghloul, N., and Moody, S.A. (2001) “Transcription factors of the anterior neural plate alter cell movements of epidermal progenitors to specify a retinal fate.” Developmental Biology, 240: 77-91.
- Zaghloul, N.A., Yan, B. and Moody, S.A. (2005) “Step-wise specification of retinal stem cells during normal embryogenesis” Biology of the Cell, 97: 321-337.
- Stoetzel, C., Muller, J., Laurier, V., Davis, E.E., Zaghloul, N.A., Vicaire, S., Jacquelin, C., Plewniak, F., Leitch, C.C., Sarda, P., Hamel, C., de Ravel, T.J., Lewis, R.A., Thibault, C., Danse, J.M., Verloes, A., Bonneau, D., Katsanis, N., Poch, O., Mandel, J.L., and Dollfus, H. (2007) “Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.” American Journal of Human Genetics. 80:1-11. (Faculty of 1000 selection - Recommended)
- Zaghloul, N.A. and Moody, S.A. (2007) “Changes in Rx1 and Pax6 activity at eye field stages differentially alter the production of amacrine neurotransmitter subtypes in Xenopus.” Molecular Vision, 13: 86-95
- Zaghloul, N.A. and Moody, S.A. (2007) “Alterations of rx1 and pax6 levels at neural plate stages differentially affect the production of retinal cell types and maintenance of retinal stem cell qualities.” Developmental Biology, 306: 222-240.
- Gerdes, J.M., Liu, Y., Zaghloul, N.A., Leitch, C.L., Lawson, S.S., Kato, M., Beachy, P.A., Beales, P.L., DeMartino, G.N., Fisher, S., Badano, J.L. and Katsanis, N. (2007) “Disruption of the basal body compromises proteosomal function and perturbs intracellular Wnt response.” Nature Genetics, 39:1350-60.
- Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L. and Katsanis, N. (2008) “Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.” Nature Genetics, 40: 443-8.
- Li, C., Inglis, P.N., Leitch, C.C., Efimenko, E., Zaghloul, N.A., Mok, C.A., Davis, E.E., Bialas, N.J., Healey, M.P., Heon, E., Zhen, M., Swoboda, P., Katsanis, N., and Leroux, M.R. (2008) “An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.” PLoS Genetics, 4: e1000044.
- Zaghloul, N.A. Katsanis, N. (2009) “Mechanistic insights into Bardet-Biedl Syndrome: a model ciliopathy.” Journal of Clinical Investigation, 119:428-437.
- *DePontual,L.,*Zaghloul, N.A.,*Thomas, S., McGaughey, D.M., Davis, E.E., Dollfus, H., Baumann, C., Bessling, S.L., Audollent, S., Pelet, A., Beales, P., Munnich, A., Lyonnet, S., Etchevers, H., Attie-Bitach, T., McCallion, A.S., Katsanis, N., and Amiel, J. (2009) “Epistatis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.” Proc Natl Acad Sci USA, 106(33): 13921-13926.
- Riazuddin, S.A., Zaghloul, N.A., Al-Saif, A., Davey, L., Diplas, B.H., Meadows, D.N., Eghrari, A.O., Minear, M.A., Li, Y.J., Klintworth, G.K., Afshari, N., Gregory, S.G., Gottsch, J.D., Katsanis, N. (2010) “Missense mutations in TCF8 cause late-onset Fuchs Corneal Dystrophy and interact with FCD4 on chromosome 9p.” American Journal of Human Genetics, 86(1):45-53.
- Zaghloul, N.A. and Katsanis, N. (2010) “Functional modules, mutational load and human genetic disease.” Trends in Genetics, 26(4): 168-176.
- Zaghloul, N.A., Liu, Y., Gerdes, J.M., Gascue, C., Oh, E.C., Leitch, C.C., Bromberg, Y., Binkley, J., Leibel, R.L., Sidow, A., Badano, J.L., Katsanis, N. (2010) “Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl Syndrome.” Proc Nat Acad Sci USA, 107(23): 10602-7.
- Zaghloul, N.A. and Brugmann, S.A. (2011) “The emerging face of primary cilia.” Genesis, 49: 231-46.
- Kim, S., Zaghloul, N.A., Bubenshchikova, E., Oh, E.C., Rankin, S., Katsanis, N., Obara, T., Tsiokas, L. (2011) “Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry.” Nature Cell Biology, 13: 351-60.
- Dowdle, W.E., Robinson, J.F., Kneist, A., Sirerol-Piquer, M.S., Frints, S.G., Corbit, K.C., Zaghloul, N.A., van Lijnschoten, G., Mulders, L., Verver, D.E., Zerres, K., Reed, R.R., Attié-Bitach, T., Johnson, C.A., García-Verdugo, J.M., Katsanis, N., Bergmann, C., Reiter, J.F. (2011) “Disruption of a ciliary b9 protein complex causes meckel syndrome”. American Journal of Human Genetics, 89(1): 94-110.
- Zaghloul, N.A. and Katsanis, N. (2011) “Zebrafish assays of ciliopathies.” Methods in Cell Biology. 105C:257-272.