Defining the Mutational Landscape of Pediatric Brain Tumors

Email Principal Investigator
All Brain Tumor Types
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Sharon J. Diskin

Children’s Hospital of Philadelphia
Philadelphia, PA, USA



CBTN Participants

About this


Understanding the mutational landscape of pediatric brain cancers, gene mutations and their significance in the growth of tumors, is pivotal in developing new treatments. Researchers seek to identify tissue specific changes and pleiotropic alterations, or multiple effects that can arise from a single gene, across pediatric brain tumor types. Such information will be important in the ongoing development of diagnoses, treatments, and assessments. Using the Pediatric Brain Tumor Atlas, researchers will perform initial analysis on Whole Genome Sequencing and RNA sequencing data, comprehensive genetic information that has been gathered across tumor types to complete this work.

Ask The


Ask the scientists

What are the goals of this project?

Researchers want to better understand genetic mutations and their effect on the development, growth and persistence of pediatric brain tumors.

What is the impact of this project?

New diagnoses, treatments, and ongoing assessments for many cancer types could be developed with the information gathered in this research.

Why is the CBTN request important to this project?

Comprehensive data across many tumor types is needed to complete this project and the data contained in the Pediatric Brain Tumor Atlas is an invaluable resource.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.

Explore the data in these informatics portals


Meet The



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, epigen


Children’s Hospital of Philadelphia

Philadelphia, PA, USA

Scientific Committee

Kristina A. Cole, MD, PhD

Kristina Cole, MD, PhD is a pediatric oncologist who has dedicated her career to translational and clinical research, combining her expertise in molecular pathology, cancer genomics, and developmental therapeutics to identify novel treatments for children with cancer. The long-term goal of Dr. Cole’


Children’s Hospital of Philadelphia

Philadelphia, PA, USA

Scientific Committee

Executive Board

Scientific co-Chair

Principal Investigator

Adam Resnick, PhD

Adam Resnick is the Director of Data Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia (CHOP) responsible for leading a multidisciplinary team to build and support a scalable, patient-focused healthcare and educational discovery ecosystem on behalf of all children. He is a


Children’s Hospital of Philadelphia

Philadelphia, PA, USA

Zalman Vaksman, PhD

Zalman is a Bioinformatics Post-Doc working in the Diskin Lab and affiliated with the Department of Biomedical and Health Informatics (DBHi) at CHOP. He is leading multiple computational projects in the lab, including a neuroblastoma genome-wide association study (GWAS) and large-scale germline and


Children’s Hospital of Philadelphia

Philadelphia, PA, USA