Sharon J. Diskin, PhD
About Sharon J. Diskin, PhD
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.
Titles
Faculty, DBHi
Associate Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Awards and Honors
2010, William Guy Forbeck Research Foundation Scholar
2010, Distinguished Research Trainee Award, Children's Hospital of Philadelphia
2010, Scholar-in-Training Award, American Association for Cancer Research (AACR)
2010, Best Basic Science Paper, Advances in Neuroblastoma Research (ANR)
2009, Trainee Award, American Society of Human Genetics (ASHG)
2009, Scholar-In-Training, American Association for Cancer Research (AACR)
2008, Saul Winegrad, MD Award for Outstanding Dissertation, University of Pennsylvania
2008, Scholar-In-Training Award, American Association for Cancer Research (AACR)
2005, Scholar-In-Training Award, American Association for Cancer Research (AACR)
Leadership and Memberships
International Organizations
2014-present, Advances in Neuroblastoma Research (ANR)
2000-present, Association for Computing Machinery (ACM)
National Organizations
2009-present, American Society of Human Genetics (ASHG)
2004-present, American Association for Cancer Research (AACR)
Editorial and Academic Positions
2016-present, Editorial Board Member, Journal of Cancer and Clinical Research
2014-present, Guest Editor, BioMed Research International, Special Issue: Translational Genomics in Pediatric Cancer
Reviewer
2014-present, Clinical Genetics
2013-present, Nature Genetics
2010-present, BMC Bioinformatics
2010-present, Human Mutation
2010-present, Nucleic Acids Research
2008-present, Cancer Research
2008-present, Genome Research
2008-present, Bioinformatics
Academic and Institutional Committees
2015-present, Member, Preliminary Examination Committee, Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania
2014-present, Member, Curriculum Advising Committee, Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania
2013-present, Member, Hearing Panel for the Student Disciplinary System, University of Pennsylvania
2013-present, Member, Scientific Review Committee, Center for Childhood Cancer (CCCR) Biobank, Children's Hospital of Philadelphia
2013-present, Member, Executive Committee, Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania
Research Interests
Her research is focused on understanding the genetic and genomic drivers of childhood cancers. A primary goal is to understand the complex interplay between germline and tumor genetics and their effect on tumorigenesis and treatment response.
Education & training
Undergraduate Degree
BS in Computer Science, Villanova University, Villanova, PA
Graduate Degree
PhD in Genomics and Computational Biology, University of Pennsylvania, Philadelphia, PA
MS in Computer Science, University of Pennsylvania, PA
Publications
Publications
2015
Derek A. Oldridge, Andrew C. Wood, Nina Weichert-Leahey, Ian Crimmins, Robyn Sussman, Cynthia Winter, Lee D. McDaniel, Maura Diamond, Lori S. Hart, Shizhen Zhu, Adam D. Durbin, Brian J. Abraham, Lars Anders, Lifeng Tian, Shile Zhang, Jun S. Wei, Javed Khan, Kelli Bramlett, Nazneen Rahman, Mario Capasso, Achille Iolascon, Daniela S. Gerhard, Jaime M. Guidry Auvil, Richard A. Young, Hakon Hakonarson, Sharon J. Diskin, A. Thomas Look, John M. Maris: Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature doi: 10.1038/nature15540, Nov 2015.
Robert W. Schnepp, Priya Khurana, Edward F. Attiyeh, Pichai Raman, Sara E. Chodosh, Derek A. Oldridge, Maria E. Gagliardi, Karina L. Conkrite, Shahab Asgharzadeh, Robert C. Seeger, Blair B. Madison, Anil K. Rustgi, John M. Maris, Sharon J. Diskin: A LIN28B-RAN-AURKA Signaling Network Promotes Neuroblastoma Tumorigenesis. Cancer Cell 9(28): 599-609, Oct 2015.
Brian J. Altman, Annie L. Hsieh, Arjun Sengupta, Saikumari Y. Krishnanaiah, Zachary E. Stine, Zandra E. Walton, Arvin M. Gouw, Anand Venkataraman, Bo Li, Pankuri Goraksha-Hicks, Sharon J. Diskin, David I. Bellovin, M. Celeste Simon, Jeffrey C. Rathmell, Mitchell A. Lazar, John M. Maris, Dean W. Felsher, John B. Hogenesch, Aalim M. Weljie, Chi V. Dang: MYC Disrupts the Circadian Clock and Metabolism in Cancer Cells. Cell Metabolism(doi:10.1016/j.cmet.2015.09.003), Sept 2015.
Thomas F Eleveld, Derek A Oldridge, Virginie Bernard, Jan Koster, Leo Colmet Daage, Sharon J Diskin, Linda Schild, Nadia Bessoltane Bentahar, Angela Bellini, Mathieu Chicard, Eve Lapouble, Valérie Combaret, Patricia Legoix-Né, Jean Michon, Trevor J Pugh, Lori S Hart, JulieAnn Rader, Edward F Attiyeh, Jun S Wei, Shile Zhang, Arlene Naranjo, Julie M Gastier-Foster, Michael D Hogarty, Shahab Asgharzadeh, Malcolm A Smith, Jaime M Guidry Auvil, Thomas B K Watkins, Danny A Zwijnenburg, Marli E Ebus, Peter van Sluis, Anne Hakkert, Esther van Wezel, C Ellen van der Schoot, Ellen M Westerhout, Johannes H Schulte, Godelieve A Tytgat, M Emmy M Dolman, Isabelle Janoueix-Lerosey, Daniela S Gerhard, Huib N Caron, Olivier Delattre, Javed Khan, Rogier Versteeg, Gudrun Schleiermacher, Jan J Molenaar, John M Maris: Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. Nature Genetics 47(8): 864-71, Aug 2015.
Mike R Russell, Annalise Penikis, Derek A Oldridge, Juan R Alvarez-Dominguez, Lee McDaniel, Maura Diamond, Olivia Padovan, Pichai Raman, Yimei Li, Jun S. Wei, Janahan Gnanachandran, Shile Zhang, Robert Seeger, Shahab Asgharzadeh, Javed Khan, Sharon J. Diskin, John M. Maris, and Kristina A. Cole: CASC15-S is a tumor suppressor lncRNA at the 6p22 neuroblastoma susceptibility locus Cancer Research Page: doi:10.1158/0008-5472.CAN-14-3613, June 2015
Jiang Y, Oldridge DA, Diskin SJ, Zhang NR: CODEX: a normalization and copy number variation detection method for whole exome sequencing. Nucleic Acids Research pii: gku1363. ([Epub ahead of print]), Jan 2015.
2014
Capasso M, Diskin SJ, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM.: Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer Res. 74(23): 6913-24, Dec 2014.
Sharon J. Diskin,Mario Capasso, Maura Diamond, Derek A. Oldridge, Karina Conkrite,Kristopher R. Bosse,Mike R. Russell,Achille Iolascon, Hakon Hakonarson,Marcella Devoto, John M. Maris: Rare Variants in TP53 and Susceptibility to Neuroblastoma. J Natl Cancer Inst 106(4), March 2014.
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.
Lectures by Invitation
Diskin SJ. Genetics of Neuroblastoma. Advances in Neuroblastoma Research; 2016 Jun; Queensland, Australia.
Diskin SJ. Genetics and Genomics of Neuroblastoma. William Guy Forbeck Scholar Retreat; 2014 Sep; Lake Geneva, WI.
Diskin SJ. Germline Variants that Influence Neuroblastoma Susceptibility and Phenotype. Advances in Neuroblastoma Research (ANR); 2014 May; Cologne, Germany.