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1975 …2021

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Personal profile

Research interests

The Dr. James Broach lab has studied a variety of biological processes using the yeast Saccharomyces as a model system.  These studies have focused primarily on the interaction of cells with their environment, exploring the nature of signaling pathways that cells use to perceive their nutritional state - such as the Ras/protein kinase A pathway and the Target of Rapamycin Complex – and the transcriptional and metabolic responses of those cells to changes in nutritional state.  More recently, the lab has focused on the cell’s stress response, using single cell imaging and genome sequencing-based studies of chromatin structure and transcriptional remodeling.  These studies yielded the remarkable finding that genetically identical cells in the same environment mount quite different responses to an applied stress, allowing the population as a whole to hedge its bets regarding the best survival strategy in the face of an uncertain future.

 

More recently, the lab has expanded its interest to the application of genomic tools to issues of disease onset and treatment. The work is conducted through the Institute for Personalized Medicine, comprising a biorepository, in which biological samples from all consented patients of the Milton S. Hershey Medical Center are stored; a genomics core, in which state of the art genotyping and NextGen sequencing is applied to the biological samples; and a bioinformatics core, in which patient outcome data obtained from electronic medical records are correlated with genomic profiling and sequencing results. The lab works closely with clinicians at the Milton S. Hershey Medical Center to identify patients whose disorder or response to treatment shows a familial pattern of inheritance, as well as cohorts of patients that have phenotypically distinct disease presentations or responses to treatment.  The lab has successfully pursued studies in a variety of diseases, including various cancers, ALS, multiple sclerosis, inflammatory bowel disease, epilepsy and osteoporosis.

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  • An engineered protein-phosphorylation toggle network with implications for endogenous network discovery

    Mishra, D., Bepler, T., Teague, B., Berger, B., Broach, J. & Weiss, R., Jul 2 2021, In: Science. 373, 6550, eaav0780.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

    Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V. & 275 others, Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Shaw, P. J., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Lauria, G., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., Oct 2021, In: JAMA neurology. 78, 10, p. 1236-1248 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Complete genome sequence and analysis of a Saccharomyces cerevisiae strain used for sugarcane spirit production

    Costa, A. C. T., Hornick, J., Antunes, T. F. S., Santos, A. M. C., Fernandes, A. A. R., Broach, J. R. & Fernandes, P. M. B., Sep 2021, In: Brazilian Journal of Microbiology. 52, 3, p. 1087-1095 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Congenital Cytomegalovirus Infection Burden and Epidemiologic Risk Factors in Countries with Universal Screening: A Systematic Review and Meta-analysis

    Ssentongo, P., Hehnly, C., Birungi, P., Roach, M. A., Spady, J., Fronterre, C., Wang, M., Murray-Kolb, L. E., Al-Shaar, L., Chinchilli, V. M., Broach, J. R., Ericson, J. E. & Schiff, S. J., 2021, (Accepted/In press) In: JAMA network open. e2120736.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
  • Identification of somatic structural variants in solid tumors by optical genome mapping

    Goldrich, D. Y., Labarge, B., Chartrand, S., Zhang, L., Sadowski, H. B., Zhang, Y., Pham, K., Way, H., Lai, C. Y. J., Pang, A. W. C., Clifford, B., Hastie, A. R., Oldakowski, M., Goldenberg, D. & Broach, J. R., Mar 2021, In: Journal of Personalized Medicine. 11, 2, p. 1-21 21 p., 142.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations