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In This Section
Sharon J. Diskin, PhD
Investigator
Dr. Diskin's research is focused on translational genomics in childhood cancers. Her laboratory seeks to identify the genetic basis of childhood cancers by combining quantitative computational methods with rigorous "wet-lab" experimental approaches. In parallel, she has developed, and is applying, a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.
Bio
Dr. Diskin is trained in genomics and computational biology and has a multi-disciplinary research program. Along with her colleagues, she couples integrative computational analyses of large-scale data such as next generation DNA/RNA sequencing, single nucleotide polymorphism (SNP) genotyping, epigenetic profiling, 3D chromatin looping, and mass spectrometry, with rigorous experimental validation. Her goal is to help improve outcomes for children diagnosed with high-risk childhood cancers.
She is currently working to identify genetic risk factors and their biological relevance in neuroblastoma, and her lab identified the first germline copy number variant (CNV) associated with neuroblastoma. Collaboratively, her team also established the genetic basis of sporadic neuroblastoma and demonstrated that genes targeted by neuroblastoma-associated germline variants not only influence tumor initiation by promoting malignant transformation, but are also required for maintenance of the malignant phenotype.
Other projects in Dr. Diskin's lab focus on defining the role of structural variation in neuroblastoma tumorigenesis, with her team identifying a rare ~550 kb germline deletion on chromosome 16 associated with neuroblastoma. In parallel, the lab found that somatic structural variant (SV) breakpoints are enriched in genes involved in neurodevelopment, and identified a novel tumor suppressor disrupted by SVs in neuroblastoma.
In addition, Dr. Diskin is investigating optimal immunotherapeutic drug targets for neuroblastoma, and has developed an integrative proteogenomic approach that combines cell surface mass spectrometry with RNA sequencing from neuroblastoma and a large set of normal pediatric and adult tissues. As a result, several proteins have been prioritized as candidate immunotherapeutic targets and are undergoing additional validation and functional studies.
Finally, Dr. Diskin often collaborates to develop new computational methods for cancer genomics and proteomics, with recent examples include CODEX, a method to improve normalization and DNA copy number detection from exome sequencing data, and GiaPronto, a web-based analytical tool for mass spectrometry data used worldwide.
Education and Training
BS, Villanova University (Computer Science), 1992
MS, University of Pennsylvania (Computer Science), 2002
PhD, University of Pennsylvania (Genomics and Computational Biology), 2008
Titles and Academic Titles
Investigator
Assistant Professor of Pediatrics
Professional Memberships
American Association of Cancer Research, 2005-
American Society of Human Genetics, 2009-
Professional Awards
American Association of Cancer Research Scholar in Training Award, 2005, 2008, 2009
American Society of Human Genetics Trainee Award, 2009
Distinguished Research Trainee Award, Children's Hospital of Philadelphia, 2010
American Association of Cancer Research Scholar in Training Award, 2010
William Guy Forbeck Research Foundation Scholar, 2010-2014
Publication Highlights
PubMed:
Weiner AK, Sidoli S, Diskin SJ, Garcia BA. Graphical Interpretation and Analysis of Proteins and their Ontologies (GiaPronto): A One-Click Graph Visualization Software for Proteomics Data Sets. Mol Cell Proteomics. 2018 Jul; 17(7):1426-1431. PMID: 29118029
McDaniel LD, Conkrite KL, Chang X, Capasso M, Vaksman Z, Oldridge DA, Zachariou A, Horn M, Diamond M, Hou C, Iolascon A, Hakonarson H, Rahman N, Devoto M, Diskin SJ. Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. PLoS Genet. 2017 May; 13(5):e1006787. PMID: 28545128
Schnepp RW, Khurana P, Attiyeh EF, Raman P, Chodosh SE, Oldridge DA, Gagliardi ME, Conkrite KL, Asgharzadeh S, Seeger RC, Madison BB, Rustgi AK, Maris JM, Diskin SJ. A LIN28B-RAN-AURKA Signaling Network Promotes Neuroblastoma Tumorigenesis. Cancer Cell. 2015 Dec; 28(5):599-609. PMID: 26481147
Diskin 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. 2012 Oct; 44(10):1126-30. PMCID: PMC3459292
Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mosse YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore A, London WB, Shaikh TH, Bradfield J, Grant S, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM. Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 2009 Jun; 459 (7249): 987-91. PMID: 19536264