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Personal profile

Research Interests

The main focus of our laboratory is developing a better understanding of how key mutations in gliomas alter their biological characteristics, and how best to exploit specific weaknesses that such mutations often impart. In particular, our laboratory focuses on mutant isocitrate dehydrogenase 1 (mutIDH1), which is present in the vast majority of WHO grade II and III gliomas. This mutation has profound effects on the epigenome and metabolome, yet produces tumors that are markedly less aggressive. Our work indicates that mutIDH1 also dramatically alters the glioma’s micro-environmental landscape by preventing the thrombosis-necrosis phenomenon that is characteristic of IDH1 wild-type gliomas. Furthermore, mutIDH1 increases the risk of seizures in patients. We are currently exploring the mechanisms by which these phenomena occur, as it will have major implications for understanding why mutIDH1 gliomas are less aggressive and how to better manage both wtIDH1 and mutIDH1 gliomas. On a clinical level, I specialize in the use of molecular testing in brain tumors to improve our diagnostic and prognostic accuracy. This is helping us achieve the goal of personalized medicine through cutting-edge next generation sequencing.

Training Experience

2004Postdoctoral Fellowship, University of Pittsburgh
2007Residency, University of Pittsburgh
2009Fellowship, University of Pittsburgh

Education/Academic qualification

MD, State University of New York

… → 2003

PhD, State University of New York

… → 2003

Research interests

  • Brain Cancer / Nervous System Cancer
  • Cancer Biology
  • Molecular Diagnostics
  • Pathology

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Grants

  • Research Output

    Extensive brainstem infiltration, not mass effect, is a common feature of end-stage cerebral glioblastomas

    Drumm, M. R., Dixit, K. S., Grimm, S., Kumthekar, P., Lukas, R. V., Raizer, J. J., Stupp, R., Chheda, M. G., Kam, K. L., McCord, M., Sachdev, S., Kruser, T., Steffens, A., Javier, R., McCortney, K. & Horbinski, C., Apr 15 2020, In : Neuro-oncology. 22, 4, p. 470-479 10 p.

    Research output: Contribution to journalArticle

  • Is Next-Generation Sequencing Alone Sufficient to Reliably Diagnose Gliomas?

    Kam, K. L., Appin, C. L., Mao, Q., Ikegami, S., Lukas, R. V., Nikiforova, M. N., Roy, S., Brat, D. J. & Horbinski, C., Jul 1 2020, In : Journal of neuropathology and experimental neurology. 79, 7, p. 763-766 4 p.

    Research output: Contribution to journalArticle

  • Phase II Study of Nonmetastatic Desmoplastic Medulloblastoma in Children Younger Than 4 Years of Age: A Report of the Children's Oncology Group (ACNS1221)

    Lafay-Cousin, L., Bouffet, E., Strother, D., Rudneva, V., Hawkins, C., Eberhart, C., Horbinski, C., Heier, L., Souweidane, M., Williams-Hughes, C., Onar-Thomas, A., Billups, C. A., Fouladi, M., Northcott, P., Robinson, G. & Gajjar, A., Jan 20 2020, In : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 38, 3, p. 223-231 9 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas

    McCord, M., Steffens, A., Javier, R., Kam, K. L., McCortney, K. & Horbinski, C., Feb 12 2020, In : Acta Neuropathologica Communications. 8, 1, 15.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations