Only 1% of neuroblastoma patients have a family history of the disease, while the remaining 99% appear to arise “sporadically”. Our lab has led the analyses in a large genome-wide association study (GWAS) of neuroblastoma in collaboration with Dr. John Maris, the Children’s Oncology Group (COG), and the Center for Applied Genomics (CAG) at CHOP. This work has demonstrated a genetic basis for “sporadic” neuroblastoma. We have genotyped blood-derived (germline) DNA from over 6,000 children diagnosed with neuroblastoma, and the CAG has provided genotypes for over 30,000 children as controls. This work has resulted in 21 peer reviewed research papers. Our laboratory has produced all computational pipelines, and discovered multiple NB susceptibility loci.

To date, GWAS studies in neuroblastoma have identified susceptibility loci associated with more than 10 different candidate genes and follow-up studies lend credence to their importance.  Many of these candidates have been validated as independent drivers of disease and play roles in both tumor initiation and aggressiveness.

With support through the NIH and Gabriella Miller Kids First (GMKF), in conjunction with the Children’s Brain Tumor Tissue Consortium, we are expanding these studies to a variety of pediatric brain tumors. We hope to further elucidate the genomics of cranial tumors in search of better treatments and cures.