Whole Genome Sequencing | CHOP Research Institute

Whole Genome Sequencing Project to Unlock Genetic Mysteries of Childhood Brain Cancer

Published on

Nov 2, 2021

Unlocking Genetic Mysteries of Childhood Brain Cancer

Whole genome sequencing for thousands of brain tumor samples will give the D³b team insight into devastating pediatric cancers.

LeukoSEQ: First-Line Whole Genome Sequencing in Leukodystrophies

While recent research has demonstrated that whole genome sequencing is a powerful first-line diagnostic tool, important questions remain around its long-term impact on downstream clinical management approaches.

The Myelin Disorders Biorepository Project (MDBP)

This study involves the collection of medical information and samples from people with a confirmed or suspected leukodystrophy or related disorder affecting the white matter of the brain, as well as "healthy controls" who are not known to be affected by one of these disorders.

Maris Laboratory

The Maris Lab investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer.

Center for Applied Genomics Laboratory

The Center for Applied Genomics (CAG) develops new and better ways to diagnose and treat children with genetic disorders, including attention-deficit/hyperactivity disorder, asthm

CHOP Microbiome Center

Looking for help with sequencing and analytics to advance your project? The CHOP Microbiome Center is the sequencing and analytical resource of the PennCHOP Microbiome Program, providing end-to-end solutions for microbiome research.

John M. Maris, MD

Dr. Maris investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer. He also aims to develop new molecular diagnostic tests and less toxic, targeted therapies to treat relapsed or refractory neuroblastoma, including a major effort in immunotherapy discovery and development.

E-mail:

maris [at] chop.edu

Rare Disease Project Makes Progress, Empowers

Published on

Apr 22, 2014

in Cornerstone Blog

In the U.S., a disease is considered rare if it affects fewer than 200,000 people. Many rare diseases have genetic origins, and almost 70 percent of Americans affected by a rare disease are children, according to the National Organization for Rare Disorders (NORD).