Descriptive "Pharmacogenomics Analysis" of the CBTN PBTA Cohort

Email Principal Investigator
Ongoing
Data
All Brain Tumor Types
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Angela Waanders

Ann & Robert H. Lurie Children’s Hospital of Chicago
Chicago, Illinois, USA

CBTN Data

966

CBTN Participants

Backer

Internal funding

About this

Project

Outcomes for pediatric cancer patients have improved over the last few decades due to advancements in treatments, including those for pediatric brain tumors. However, side effects can still have negative effects on patients long after treatment is complete, and some research focus has shifted to combating these effects. One emerging field to address this issue is Pharmacogenomics, the use of genetic information to predict an individual’s response to specific medications. This can help identify patients at increased risk for treatment related toxicities, guiding medical professionals in treatment decisions. An example of the potential impact of research into pharmacogenomics in pediatric cancers is vincristine. Vincristine is a chemotherapy agent that is used in many treatment protocols, including for low-grade gliomas and medulloblastoma. Vincristine is also associated with significant side effects often resulting in dose reductions. Two different studies have identified a genetic variation in the promoter of the CEP72 gene, rs924607, in both adult and pediatric patients with acute lymphoblastic leukemia. This genetic variation is associated with increased rates of vincristine side effects. The role of this variation has not been evaluated in other cancers, such as low-grade gliomas, medulloblastoma, and rhabdomyosarcoma, despite the wide use of vincristine in these treatment regimens. Using the over 900 pediatric tumor genomes sequenced in the Pediatric Brain Tumor Atlas, this study will help to define the frequency of genetic risks for vincristine-related side effects in patients with a spectrum of diagnoses. This research could serve to prevent reductions in therapy due to toxicity, increasing the likelihood of a positive response to treatment.

Ask The

Scientists

Ask the scientists

What are the goals of this project?

Researchers are looking to identify genetic risk for vincristine-related side effects in pediatric brain cancer patients.

What is the impact of this project?

Many patients experience vincristine related side effects that result in reductions in treatment. Identification of risk factors for these side effects could help guide research in combating such side effects, increasing the likelihood of treatment success.

Why is the CBTN request important to this project?

The dataset provided through the Pediatric Brain Tumor Atlas provides researchers with comprehensive data across many pediatric brain cancer types, greatly increasing the broad impact of this work.

Explore the data in these informatics portals

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Meet The

Team

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Scientific Committee

Executive Board

Executive co-Chair

Principal Investigator

Angela Waanders, MD, MPH

Specialties:Hematology, Oncology, Neuro-Oncology & Stem Cell TransplantationEducation: Tulane University School of Medicine, 2003Postgraduate Training: Fellowship in pediatric hematology/oncology, Children's Hospital of Philadelphia, 2006-2009; Residency is pediatrics, Children's Hospital of Philade

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Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago, Illinois, USA
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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

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Children’s Hospital of Philadelphia

Philadelphia, PA, USA
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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

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Children’s Hospital of Philadelphia

Philadelphia, PA, USA
Sabah Kadri

Sabah Kadri, PhD

I have a PhD in Computational Biology from the Joint CMU-UPitt Computational Biology Program at Carnegie Mellon University and currently work as Director of Bioinformatics at Lurie Children's Hospital of Chicago and Assistant Professor of Pathology at Northwestern University.As a scientist , I am in

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Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago, Illinois, USA
Kai Yap

Kai Lee Yap, PhD

Dr. Yap is Director of the Lurie Children's Molecular Diagnostics Laboratory located at the Lincoln Park Outpatient Center. Her clinical expertise lies in the genetic diagnosis of pediatric constitutional disorders and childhood malignancies. Prior to joining Lurie in 2017, she completed her Clinica

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Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago, Illinois, USA
Elizabeth Sokol

Elizabeth Sokol, MD

When I was deciding where I wanted to pursue a fellowship in Heme/Onc, early on I came to the realization that Comer was the place for me. There is a great balance between both research and clinical practice. We have the advantage of being a growing section within an amazing research institution wit

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Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago, Illinois, USA

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