Sharon J. Diskin, Ph.D.
Colket Translational Research Building, Room 3026
3501 Civic Center Blvd.
Philadelphia, PA 19104
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.
Description of Research ExpertiseMy 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 PublicationsDiskin SJ, Capasso M, Schnepp RW, Cole KA, Attiyeh EF, Hou C, Diamond M, Carpenter EL, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris JM: Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet 44(10): 1126-30, October 2012.
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. Nat Genet 45(3): 279-84, March 2013.
Bosse KR, Diskin SJ, Cole KA, Wood AC, Schnepp RW, Norris G, Nguyen LB, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh EF, Mosse YP, Pineros V, Dizin E, Zhang Y, Asgharzadeh S, Seeger RC, Capasso M, Pawel BR, Devoto M, Hakonarson H, Rappaport EF, Irminger-Finger I, Maris JM: Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Res 72(8): 2068-78, April 2012.
Wang K*, Diskin SJ*, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SFA, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M, Rahman N, Hakonarson H, Maris JM: Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 469(7329): 216-20, January 2011 Notes: *equal contribution.
Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SFA, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM: Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet 41(6): 718-23, June 2009.
Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mossé YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AIF, London WB, Shaikh TH, Bradfield J, Grant SFA, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459(7249): 987-91, June 2009.
Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SFA, Li H, Hakonarson H: Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med 358(24): 2585-93, June 2008.