National Genomics Expert Available to Comment on Gene Sequencing Projects

Article ID: 601747

Released: 16-Apr-2013 10:00 AM EDT

Source Newsroom: St. Jude Children's Research Hospital

Expert Pitch

James Downing, M.D., is available for interviews and can provide commentary on the genetic basis of cancer and the promise of next-generation, whole-genome sequencing for advancing treatment and cures of human disease. As the scientific world marks the 10th anniversary of the Human Genome Project, St. Jude Children’s Research Hospital is mining the genome for the next generation of childhood cancer treatment. Downing’s leadership of the Pediatric Cancer Genome Project has led to groundbreaking discoveries in some of the most aggressive childhood cancers.

The St. Jude – Washington University Pediatric Cancer Genome Project is using next-generation, whole genome sequencing to advance understanding of the genetic basis of some of the least understood and most difficult-to-treat childhood cancers. In just three years, the Pediatric Cancer Genome Project has deciphered the complete normal and cancer genomes of more than 700 children and adolescents with 15 different cancers of the eye, blood, brain and other organs. Prior to the project’s launch in 2010, not a single child’s genome, cancer or normal, had been sequenced. “The results have exceeded our expectations,” said James Downing, M.D., St. Jude scientific director. Phase II of the effort is now underway.

The privately funded, $65 million project has dramatically advanced understanding of and possible treatments for a number of childhood cancers, including retinoblastoma, two aggressive leukemias as well as several brain and solid tumors. Analytic tools developed by project scientists are now widely used by investigators worldwide who are using genome sequencing to study a range of diseases. In February 2013, the Pediatric Cancer Genome Project was recognized as one of TIME magazine’s top 100 new scientific discoveries. In 2012, the Pediatric Cancer Genome Project led to the largest-ever release of comprehensive human cancer genome data for use at no cost to the international scientific community. The release makes all whole genome sequencing data from the Pediatric Cancer Genome Project available via the Web-based European Genome-Phenome Archive.

St. Jude Media Relations ContactsSummer Freeman(desk) 901-595-3061(cell) 901-297-9861summer.freeman@stjude.org

Carrie Strehlau(desk) 901-595-2295(cell) 901-297-9875carrie.strehlau@stjude.org


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