Graduate Group in Genomics and Computational Biology

Sharon J. Diskin, Ph.D.

faculty photo
Assistant Professor of Pediatrics
Department: Pediatrics
Graduate Group Affiliations

Contact information
3501 Civic Center Blvd.
Room 3026, Colket Translational Research Building (CTRB)
Division of Oncology and Center for Childhood Cancer Research
Children's Hospital of Philadelphia
Philadelphia, PA 19104
Office: (215) 590-9160
B.S. (Computer Science)
Villanova University , 1992.
M.S. (Computer Science)
University of Pennsylvania, 2002.
Ph.D. (Genomics and Computational Biology)
University of Pennsylvania, 2008.
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Description of Research Expertise

My research interests are focused on translational genomics in childhood
cancers. I am trained in computational cancer genomics and am studying the complex interplay between germline and tumor genetics and their effect on tumor initiation, progression and response to therapy. My research program is inherently multi-disciplinary in that it couples integrative computational analyses of large scale data such as next generation sequencing, single nucleotide polymorphism (SNP) genotyping, mRNA, miRNA and lincRNA expression, epigenetic profiling, and DNA copy number data, with rigorous experimental validation. We are defining how neuroblastoma-associated SNPs and copy number variations (CNVs) influence tumorigenesis and patient outcome and have recently identified LIN28B as a major oncogenic driver in neuroblastoma. In parallel to this, and as part of new project, we are investigating genetic susceptibility to treatment related comorbidities such as platinum-induced hearing loss.

Selected Publications

Pinto N, Gamazon ER, Antao N, Myers J, Stark AL, Konkashbaev A, Kyung Im H, Diskin SJ, London WB, Ludeman SM, Maris JM, Cox NJ, Cohn SL, Dolan ME: Integrating Cell-Based and Clinical Genome-Wide Studies to Identify Genetic Variants Contributing to Treatment Failure in Neuroblastoma Patients. Clin Pharmacol Ther. doi: 10.1038/clpt.2014.37, Feb 2014.

Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, Wei JS, Auclair D, Carter SL, Cibulskis K, Hanna M, Kiezun A, Kim J, Lawrence MS, Lichenstein L, McKenna A, Pedamallu CS, Ramos AH, Shefler E, Sivachenko A, Sougnez C, Stewart C, Ally A, Birol I, Chiu R, Corbett RD, Hirst M, Jackman SD, Kamoh B, Khodabakshi AH, Krzywinski M, Lo A, Moore RA, Mungall KL, Qian J, Tam A, Thiessen N, Zhao Y, Cole KA, Diamond M, Diskin SJ, Mosse YP, Wood AC, Ji L, Sposto R, Badgett T, London WB, Moyer Y, Gastier-Foster JM, Smith MA, Auvil JM, Gerhard DS, Hogarty MD, Jones SJ, Lander ES, Gabriel SB, Getz G, Seeger RC, Khan J, Marra MA, Meyerson M, Maris JM.: The genetic landscape of high-risk neuroblastoma. Nature Genetics 45(3): 279-84, Mar 2013.

Gamazon ER, Pinto N, Konkashbaev A, Im HK, Diskin SJ, London WB, Maris JM, Dolan ME, Cox NJ, Cohn SL.: Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. J Natl Cancer Inst. 105(4): 302-9, Feb 2013.

Diskin Sharon J, Capasso Mario, Schnepp Robert W, Cole Kristina A, Attiyeh Edward F, Hou Cuiping, Diamond Maura, Carpenter Erica L, Winter Cynthia, Lee Hanna, Jagannathan Jayanti, Latorre Valeria, Iolascon Achille, Hakonarson Hakon, Devoto Marcella, Maris John M: Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nature genetics 44(10): 1126-30, Oct 2012.

Bosse Kristopher R, Diskin Sharon J, Cole Kristina A, Wood Andrew C, Schnepp Robert W, Norris Geoffrey, Nguyen Le B, Jagannathan Jayanti, Laquaglia Michael, Winter Cynthia, Diamond Maura, Hou Cuiping, Attiyeh Edward F, Mosse Yael P, Pineros Vanessa, Dizin Eva, Zhang Yongqiang, Asgharzadeh Shahab, Seeger Robert C, Capasso Mario, Pawel Bruce R, Devoto Marcella, Hakonarson Hakon, Rappaport Eric F, Irminger-Finger Irmgard, Maris John M: Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer research 72(8): 2068-78, Apr 2012.

Latorre Valeria, Diskin Sharon J, Diamond Maura A, Zhang Haitao, Hakonarson Hakon, Maris John M, Devoto Marcella: Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer epidemiology, biomarkers & prevention 21(4): 658-63, Apr 2012.

Wang Kai, Diskin Sharon J, Zhang Haitao, Attiyeh Edward F, Winter Cynthia, Hou Cuiping, Schnepp Robert W, Diamond Maura, Bosse Kristopher, Mayes Patrick A, Glessner Joseph, Kim Cecilia, Frackelton Edward, Garris Maria, Wang Qun, Glaberson Wendy, Chiavacci Rosetta, Nguyen Le, Jagannathan Jayanti, Saeki Norihisa, Sasaki Hiroki, Grant Struan F A, Iolascon Achille, Mosse Yael P, Cole Kristina A, Li Hongzhe, Devoto Marcella, McGrady Patrick W, London Wendy B, Capasso Mario, Rahman Nazneen, Hakonarson Hakon, Maris John M: Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 469(7329): 216-20, Jan 2011.

Capasso Mario, Devoto Marcella, Hou Cuiping, Asgharzadeh Shahab, Glessner Joseph T, Attiyeh Edward F, Mosse Yael P, Kim Cecilia, Diskin Sharon J, Cole Kristina A, Bosse Kristopher, Diamond Maura, Laudenslager Marci, Winter Cynthia, Bradfield Jonathan P, Scott Richard H, Jagannathan Jayanti, Garris Maria, McConville Carmel, London Wendy B, Seeger Robert C, Grant Struan F A, Li Hongzhe, Rahman Nazneen, Rappaport Eric, Hakonarson Hakon, Maris John M: Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature genetics 41(6): 718-23, Jun 2009.

Diskin Sharon J, Hou Cuiping, Glessner Joseph T, Attiyeh Edward F, Laudenslager Marci, Bosse Kristopher, Cole Kristina, Mossé Yaël P, Wood Andrew, Lynch Jill E, Pecor Katlyn, Diamond Maura, Winter Cynthia, Wang Kai, Kim Cecilia, Geiger Elizabeth A, McGrady Patrick W, Blakemore Alexandra I F, London Wendy B, Shaikh Tamim H, Bradfield Jonathan, Grant Struan F A, Li Hongzhe, Devoto Marcella, Rappaport Eric R, Hakonarson Hakon, Maris John M: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459(7249): 987-91, Jun 2009.

Maris John M, Mosse Yael P, Bradfield Jonathan P, Hou Cuiping, Monni Stefano, Scott Richard H, Asgharzadeh Shahab, Attiyeh Edward F, Diskin Sharon J, Laudenslager Marci, Winter Cynthia, Cole Kristina A, Glessner Joseph T, Kim Cecilia, Frackelton Edward C, Casalunovo Tracy, Eckert Andrew W, Capasso Mario, Rappaport Eric F, McConville Carmel, London Wendy B, Seeger Robert C, Rahman Nazneen, Devoto Marcella, Grant Struan F A, Li Hongzhe, Hakonarson Hakon: Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. The New England journal of medicine 358(24): 2585-93, Jun 2008.

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Last updated: 09/30/2016
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