About

Sharon J. Diskin, Ph.D., is an Associate Professor of Pediatrics (Oncology) at the University of Pennsylvania and a faculty member at the Abramson Cancer Center. She is also affiliated with the Center for Childhood Cancer Research at Children's Hospital of Philadelphia and is part of the Department of Biomedical and Health Informatics at Children's Hospital of Philadelphia. Her research focuses on translational genomics in childhood cancers, with training in computational cancer genomics. Her work studies the complex interplay between germline and tumor genetics and their effects on tumor initiation, progression, and response to therapy. Dr. Diskin's research program is multidisciplinary, combining integrative computational analyses of large-scale data—including next-generation sequencing, SNP genotyping, mRNA, miRNA, lincRNA expression, epigenetic profiling, and DNA copy number data—with experimental validation. She has contributed to understanding how neuroblastoma-associated SNPs and copy number variations influence tumorigenesis and patient outcomes, notably identifying LIN28B as a major oncogenic driver in neuroblastoma. Her research also investigates genetic susceptibility to treatment-related comorbidities such as platinum-induced hearing loss.

Research topics

• Bioinformatics
• Biology
• Oncology
• Pathology
• Genetics
• Computational biology
• Medicine

Selected publications

• Supplementary Figure 1 from Defining the Functional Role and Potential as an Immunotherapeutic Target of ALCAM in Neuroblastoma

  2026-04-02

  articleOpen access

  <p>ALCAM expression in cell lines, developing adrenal gland and patient tumors.</p>

  PublisherDOI

• Supplementary Figure 2 from Defining the Functional Role and Potential as an Immunotherapeutic Target of ALCAM in Neuroblastoma

  2026-04-02

  articleOpen access

  <p>MYCN binding to GP2 and ODC1 and enhancer window ATAC.</p>

  PublisherDOI

• Data from Defining the Functional Role and Potential as an Immunotherapeutic Target of ALCAM in Neuroblastoma

  2026-04-02

  articleOpen access

  <div>Abstract<p>Despite intensive, multimodal therapy, only half of children diagnosed with high-risk neuroblastoma will survive 5 years, and survivors harbor significant short- and long-term treatment-related comorbidities. Although mAb therapy targeting GD2 has improved outcomes, GD2-directed immunotherapy remains one of the only FDA-approved immunotherapies for pediatric cancer, and therapy is toxic due to GD2 expression on pain fibers. Thus, there is a critical need to uncover new immunotherapy targets in neuroblastoma. Activated leukocyte cell adhesion molecule (ALCAM) is a cell adhesion molecule that promotes tumor growth in a variety of cancers and is highly expressed in neuroblastoma. We generated three inducible CRISPR inhibition cell lines to deplete ALCAM and elucidate its role in neuroblastoma. Depletion of ALCAM reduced cell growth, reduced Ki-67 staining, and increased cleaved PARP. To determine the mechanism of ALCAM overexpression, we used chromatin immunoprecipitation sequencing to show MYCN oncoprotein binding at the <i>ALCAM</i> promoter. We generated luciferase reporters from the <i>ALCAM</i> promoter and a putative upstream (10 kb) enhancer, which we defined using Promoter-based Capture-C. Treatment with the MYC(N)/MAX dimerization inhibitor MYCi975 reduced ALCAM expression by immunoblotting and luciferase signal from the <i>ALCAM</i> promoter. We validated the activity of the upstream enhancer and uncovered an AP-1–binding motif that is critical for enhancer activity. Finally, as ALCAM is expressed in several normal tissues, we investigated an ALCAM-targeted conditionally activated antibody–drug conjugate, CX-2009 (praluzatamab ravtansine), which delayed tumor growth in two of three patient-derived xenograft models. Together, these findings credential ALCAM as an immunotherapeutic target in neuroblastoma.</p></div>

  PublisherDOI

• Supplementary Tables from Defining the Functional Role and Potential as an Immunotherapeutic Target of ALCAM in Neuroblastoma

  2026-04-02

  articleOpen access

  <p>Supplementary Tables 1-2</p>

  PublisherDOI

• Supplementary Figure from Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility

  2025-11-26

  articleOpen access

  Supplementary Figure from Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility

  PublisherOA PDFDOI

• Supplementary Figure from Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility

  2025-11-26

  articleOpen access

  Supplementary Figure from Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility

  PublisherOA PDFDOI

• Supplementary Figure from Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility

  2025-11-26

  articleOpen access

  Supplementary Figure from Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility

  PublisherOA PDFDOI

• Tables S1-S3 from Integrative Genomic Analyses Identify LncRNA Regulatory Networks across Pediatric Leukemias and Solid Tumors

  2025-11-24

  articleOpen accessSenior author

  <p>Table S1: TARGET clinical sample and RNA-sequencing characteristics, Table S2: Genomic loci for lncRNA and protein coding genes in this study, Table S3: Number and types of genes expressed per cancer</p>

  PublisherDOI

• Tables S13-S14 from Integrative Genomic Analyses Identify LncRNA Regulatory Networks across Pediatric Leukemias and Solid Tumors

  2025-11-24

  articleOpen accessSenior author

  <p>Table S13: lncRNAs associated with CRC of NBL, Table S14: Differentially expressed lncRNAs between major subtypes in NBL</p>

  PublisherDOI

• Figure S1 from Integrative Genomic Analyses Identify LncRNA Regulatory Networks across Pediatric Leukemias and Solid Tumors

  2025-11-24

  articleOpen accessSenior author

  <p>Figure S1: Workflow for RNA-seq gene mapping and quantification</p>

  PublisherOA PDFDOI

Recent grants

• NIH Grant R00CA151869

  NIH · $707k · 2016

• Discovering the genetic basis of neuroblastoma initiation and progression

  NIH · $344k · 2018–2021

• Structural Variation in Neuroblastoma

  NIH · $1.9M · 2016–2023

• Elucidating the role of the noncoding genome in neuroblastoma

  NIH · $2.0M · 2021–2027

• Identification and characterization of genetic risk factors in pediatric brain tumors

  NIH · $356k · 2023–2026

Frequent coauthors

• John M. Maris

  529 shared

• Håkon Håkonarson

  University of Pennsylvania

  168 shared

• Kristina A. Cole

  University of Pennsylvania

  158 shared

• Karina L. Conkrite

  148 shared

• Mario Capasso

  147 shared

• Maura Diamond

  Children's Hospital of Philadelphia

  140 shared

• Yaël P. Mossé

  University of Pennsylvania

  133 shared

• Marcella Devoto

  National Research Council

  130 shared

Labs

• Diskin LaboratoryPI

Education

• Post Doctoral Fellow, Pediatrics, Division of Oncology

  University of Pennsylvania

  2012

• Ph.D., Genomics and Computational Biology

  University of Pennsylvania

  2008

• M.S., Computer Science

  University of Pennsylvania

  2002