Janos Sumegi, M.D., Ph.D.

Department Affiliations

Our research program focuses on the genomics and molecular pathogenesis of primary immunodeficiencies and bone and soft tissue tumors, with an emphasis on gene expression analysis and using bioinformatic approaches to use this information to identify novel biomarkers and potential therapeutic targets.

Awards and Honors
The Global Directory of Who's Who (2013)
Cuyahoga Cancer Research Award for Studies in Molecular Genetics of Rhabdomyosarcoma, American Cancer Society, Ohio Division, 2007
Yamagiva-Yoshida Award in Cancer Genetics for studies on the retinoblastoma  (Rb) gene, 1989
Balthazar von Platten Award for Studies in Molecular Genetics of Lymphomas, 1984
Carrier Award from EMBO in Molecular Biology, 1980-1983
Award from the Hungarian Academy of Science for implementing Molecular Biology/Genetics research in Budapest, Hungary, 1976

National Activities
Histiocyte Society since 2003
ESPHI, since 2004 (Board member between 2008 and 2008)
ESID, since 2005
American Association for Advancement of Science, since 1990
American Society of Human Genetics, since 1992
Association for Research in Oto-Laryngology 1993-2002
European Society of Human Genetics 1995-2000
European Association for Vision and Eye Research 1998-2000

Recent Publications

Janos Sumegi, Shawnagay Nestheide, Bruce Aronow, David Fletcher, Mehdi Keddache, Joyce Villanueva, Kejian Zhang, and Alexandra H. Filipovich MicroRNA Activation Signature in Patients with Hemophagocytic Lymphohistiocytosis and Reversibility with Disease-Specific Therapy. Journal of Allergy and Clinical Immunology 2015 Jul 17. pii: S0091-6749(15)00797-6.

Sumegi J, Nestheide SV, Barnes MG, Villanueva J, Zhang K, Grom AA, Filipovich  AH. Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. Blood. 2013 Feb 14;121(7):e14-24.

Bridge JA, Liu XQ, Sumegi J, Nelson M, Reyes C, Bruch LA, Rosenblum M, Puccioni MJ, Bowdino BS, McComb RD. Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. Brain Pathol. 2013 Mar;23(2):121-8.

Nestheide S, Bridge JA, Barnes M, Frayer R, Sumegi J. Pharmacologic inhibition of epigenetic modification reveals targets of aberrant promoter methylation in Ewing sarcoma. Pediatr Blood Cancer. 2013 Sep;60(9):1437-46.

Bridge JA, Sanders K, Huang D, Nelson M, Neff JR, Muirhead D, Walker C, Seemayer TA, Sumegi J. Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone. Hum Pathol. 2012 May 9.

Wagner L, Smolarek T, Sumegi J, Marmer D "Assessment of Minimal Residual Disease in Ewing Sarcoma," Sarcoma, vol. 2012, Article ID 780129, 8 pages, 2012. doi:10.1155/2012/780129.

Sumegi J, Nishio J, Nelson M, Frayer RW, Perry D, Bridge JA. A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Mod Pathol. 2011 Mar;24(3):333-42.

Sumegi J, Barnes MG, Nestheide SV, Molleran-Lee S, Villanueva J, Zhang K, Risma KA, Grom AA, Filipovich AH. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood. 2011 Apr 14;117(15):e151-60.

Toth B, Erdos M, Szekely A, Sumegi J, Marodi L. Molecular characterization of novel sphingomyelin phosphodieesterase 1 mutations causing Niemann-Pick disease. JIMD Reports 2011, article ID8; 904_80, 6 pages.

For a detailed list of publications, click here.