Sharon J. Diskin, PhD

female silhouette icon

Sharon J. Diskin, PhD, is a member of the faculty of the Department of Biomedical and Health Informatics at Children's Hospital of Philadelphia and Assistant Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and 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

 

Titles and Academic Titles

Faculty, DBHi

Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
 

Departments and Services

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. 

Publications

Papers

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.

Abstracts

2016

Amber Weiner, Simone Sidoli, Sharon J. Diskin, Ben Garcia: A one-click graph visualization R program for proteomics datasets. 64th ASMS Conference, San Antonio, Texas, USA June 2016.

2015

Yuchao Jiang, Derek A. Oldridge, Sharon J. Diskin, Nancy R. Zhang: CODEX: a normalization and copy number variation detection method for whole-exome sequencing. American Association for Cancer Research Annual Meeting, Philadelphia, PA, USA April 2015.

Robert W. Schnepp, Priya Khurana, Edward F. Attiyeh, Sara Chodosh, Pichai Raman, Derek A. Oldridge, Maria E. Gagliardi, Karina Conkrite, Shahab Asgharzadeh, Robert C. Seeger, Blair Madison, Anil Rustgi, John M. Maris, Sharon J. Diskin: A LIN28B/RAN/AURKA signaling network promotes neuroblastoma tumorigenesis American Association for Cancer Research Annual Meeting, Philadelphia, PA, USA April 2015.

Mike R. Russell, Annalise Penikis, Derek Oldridge, Juan R. Alvarez-Dominguez, Lee McDaniel, Maura Diamond, Olivia Padovan, Pichai Raman, Yimei Li, Jun Wei, Shile Zhang, Janahan Gnanachandran, Robert Seeger, Shahab Asgharzadeh, Javed Khan, Sharon Diskin, John Maris, Kristina Cole: CASC15 is a tumor suppressor lncRNA at the 6p22 neuroblastoma susceptibility locus American Association for Cancer Research Annual Meeting, Philadelphia, PA, USA April 2015.

Karina Conkrite, Nicole Ferraro, Lee McDaniel, Derek Oldridge, Edward Attiyeh, Jun Wei, Shile Zhang, Shahab Asgharzadeh, Maura Diamond, Jaime Guidry Auvil, Tanja Davidsen, Malcolm Smith, Wendy B. London, Robert Seeger, Javed Khan, Daniela S. Gerhard, John M. Maris, Sharon J. Diskin: Identification of SHANK2 as a tumor suppressor disrupted by recurrent structural variation (SV) in neuroblastoma. American Association for Cancer Research Annual Meeting, Philadelphia, PA, USA April 2015.

Derek A. Oldridge, Thomas F. Eleveld, Virginie Bernard, Jan Koster, Leo C. Daage, Sharon J. Diskin, Linda Schild, Nadia B. 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, Malcolm A. Smith, Jaime G. Auvil, Thomas B. K. Watkins, Danny A. Zwijnenburg, Marli E. Ebus, Peter van Sluis, Anne Hakkert, Esther van Wezel1, 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, John M. Mar is, Jan J. Molenaar: Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations. American Association for Cancer Research Annual Meeting, Philadelphia, PA, USA April 2015.

2014

Sharon J. Diskin, Lee McDaniel, Derek A. Oldridge, Edward Attiyeh, Shahab Asgharzadeh, Daniel J. Weisenberger, Hui Shen, Maura Diamond, Jaime GuidryAuvil, Tanja Davidsen, Malcolm Smith, Daniela S. Gerhard, Michael Hogarty, Wendy B. London, Javed Khan, Robert Seeger, Peter W. Laird, John M. Maris: Integrative Genomic and Epigenomic Characterization of Stage 4S Neuroblastoma Advances in Neuroblastoma Research 2014, Cologne, Germany May 2014.

Sharon J. Diskin, Karina Conkrite, Lee McDaniel, Derek Oldridge, Edward Attiyeh, Shahab Asgharzadeh, Maura Diamond, Jaime Guidry Auvil, Tanja Davidsen, Malcolm Smith, Daniela S. Gerhard3, Wendy B. London, Javed Khan, Robert Seeger, John M. Maris: Identification of Recurrent Germline and Somatic Structural Variations (SVs) Influencing Tumorigenesis Advances in Neuroblastoma Research 2014, Cologne, Germany May 2014.

Derek Oldridge, Lee McDaniel, Edward Attiyeh, Shahab Asgharzadeh, Maura Diamond, Jaime Guidry Auvil, Tanja Davidsen, Malcolm Smith, Daniela S. Gerhard, Julie Gastier-Foster, Michael Hogarty, Wendy London, Javed Khan, Robert Seeger, Sharon J. Diskin, John M. Maris: High-Risk Neuroblastoma Genomic Plasticity Allows for Significant Clonal Evolution under the Selective Pressure of Chemotherapy Advances in Neuroblastoma Research 2014, Cologne, Germany May 2014.

Derek Oldridge, Andrew C. Wood, Shizhen Zhu Shizen, Takaomi Sanda, Gonzalo G Lopez, Cynthia Winter, Ian Crimmins, Lars Anders, Jun S. Wei, Sharon J. Diskin, Nazneen Rahman, Mario Cappasso, Javed Khan, Andrea Califano, Richard A. Young, A. Thomas Look, John M Maris: The neuroblastoma oncogene LMO1: Mechanisms for tumor initiation and progression.

Derek Oldridge, Andrew C. Wood, Shizhen Zhu Shizen, Takaomi Sanda, Gonzalo G Lopez, Cynthia Winter, Ian Crimmins, Lars Anders, Jun S. Wei, Sharon J. Diskin, Nazneen Rahman, Mario Cappasso, Javed Khan, Andrea Califano, Richard A. Young, A. Thomas Look, John M Maris: The neuroblastoma oncogene LMO1: Mechanisms for tumor initiation and progression. Advances in Neuroblastoma
Research 2014, Cologne, Germany May 2014.

Posters and Presentations

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.

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)

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

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)