CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

CAG scientists are dedicated to finding novel approaches to tackling neuroblastoma, and private support can help nurture these innovative projects.

The most common cancer in infancy is neuroblastoma, a tumor of the neuroendocrine cells (cells that receive input from nerve cells). Children with neuroblastoma can be grouped into low, intermediate, and high-risk groups – for high-risk patients, the cancer is often fatal.

In 2008, CAG Director, Hakon Hakonarson, and collaborator, John Maris, identified a gene variant that confers an approximately 2-fold increased risk to this disease. This study was the first to isolate a germline risk variant in pediatric cancer using the genome-wide association approach.

In a follow-up study, the group uncovered a genetic variant that explains the familial form of neuroblastoma and identified the mechanism by which it causes this deadly cancer.

In tandem with these genetic approaches, CAG's translational team been working to identify drug treatments that match the genomic profile of neuroblastoma. As a result of this approach, we have identified an existing drug that may be more effective in treating the disease.

We are now poised to begin clinical trials using this novel treatment, and your support can help drive this research forward.

If you would like to hear more about our infectious disease program please contact This email address is being protected from spambots. You need JavaScript enabled to view it..