Neurofibromatosis 1 (NF1) is a genetic disorder characterized by the development of multiple non-cancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). Understanding the mutations that occur in both NF1 and brain tumors could provide an understanding of the underlying mechanisms of the growth of both tumor types. This project will result in a comprehensive list of genes that are co-mutated with NF1. This information could then be used to research and develop improved therapeutics and outcomes for children diagnosed. This work is made possible through the provision of access to the large and comprehensive datasets in the Pediatric Brain Tumor Atlas.
What are the goals of this project?
Researchers are looking for mutations that occur both in brain tumors and tumors that form as a result of the genetic disorder neurofibromatosis 1.
What is the impact of this project?
The identification of co-occurring mutations could lead to advancements in the care of both tumor forms.
Why is the CBTN request important to this project?
This work is made possible through access to the large and comprehensive datasets on pediatric brain tumors in the Pediatric Brain Tumor Atlas.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.
Thomas De Raedt, PhD
Dr. De Raedt researches pediatric high grade glioma development and aims to understand the involvement of crucial pathways. He investigates pathway interaction, and explores ways to develop therapies through analyzing human tumors, performing cellular studies, and developing accurate mouse models. T
Children’s Hospital of Philadelphia
Children’s Hospital of PhiladelphiaJoined on
Operations Center for the Children’s Brain Tumor Tissue Consortium, the Children’s Hospital of Philadelphia (CHOP) is currently ranked 1st nationally for their Pediatric Cancer Program by U.S. News & World Report. CHOP’s Biobank is home to the CBTTC’s pediatric brain and CNS tumor biorepository; the
Elucidating the Role of Driver Mutations in Pediatric High Grade Glioma
It is crucial that the mutational drivers of pediatric high grade gliomas (pHGGs) are better understood if new therapies are to be developed. Using samples from the Children’s Brain Tumor Network, researchers seek to identify drivers of pHGG progression.
Thomas De Raedt