Researchers find gene location that gives rise to neuroblastoma, an aggressive childhood cancer

Because their finding reveals only the first step in a series of molecular events, added Maris, it would be premature to do prenatal genetic testing for the SNPs on chromosome 6. His research team will continue to perform genetic analyses, in search of other gene changes that interact with those SNPs. One data source will be 5,000 tissue samples in Maris’s lab—the world’s largest collection of neuroblastoma samples, drawing on decades of research into the disease by Maris, his colleagues and predecessors at Children’s Hospital.

“This discovery lays the foundation for learning how these initial changes influence biological pathways that lead to neuroblastoma,” added Maris. “Understanding those pathways may guide us to new and better therapies that precisely target this cancer.” Hakonarson added, “This study represents one of many ongoing projects to which scientists at The Children’s Hospital of Philadelphia are committed, and we anticipate several comparable discoveries will be made in other common and equally complex pediatric disorders, such as autism, asthma, ADHD and diabetes.”

The National Institutes of Health supported the study, along with grants from the Alex’s Lemonade Stand Foundation, the Center for Applied Genomics, the Abramson Family Cancer Research Institute and the Institute of Cancer Research, located in the U.K.

Among Maris’s and Hakonarson’s co-authors were several collaborators from The Children’s Hospital of Philadelphia and the University of Pennsylvania School of Medicine; the Institute of Cancer Research in Surrey, U.K.; the University of Birmingham, U.K.; the University Federico II, Naples, Italy; the University of Rome; the Children’s Hospital of Los Angeles; and the University of Florida.

About The Children’s Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.