Funded Research

High-throughput Rare Variant Detection in High-risk Pediatric Acute Lymphoblastic Leukemia
Principal Investigator(s):
Status:
Completed
Center(s):
  • McDonnell Pediatric Cancer Center
Award Mechanism:
Faculty Recruitment/Scholar Award
Project Period:
7/1/2010 - 6/30/2015
Total Amount:
$300,000
The goal of Dr. Druley's lab is to better understand how rare genetic variation influences the onset and treatment of complex disease, particularly children’s cancer. Most of the diseases that plague our healthcare system--cancer, diabetes, obesity, heart disease--are not driven by a single gene or a few common DNA mutations. Instead, a complex network involving many genes seems to be responsible. To that end, every person harbors thousands of unique DNA mutations, all of which are quite rare in the general population and most of which are harmless. However, individuals with an assortment of harmful mutations within several critical genes may be more prone to these complex illnesses. To identify these “critical genes” requires sequencing many genes in many individuals and comparing that information to a similar population of unaffected individuals. Through Dr. Druley's pioneering efforts at pooling hundreds of DNA samples and accurately identifying genetic mutations in dozens of genes using our unique computational software, his lab is adapting the latest in high-throughput genomic technology to find these critical genes in populations of children with high-risk acute lymphoblastic leukemia (ALL). In collaboration with the Children’s Oncology Group and the approval of the National Cancer Institute, Dr. Druley and his team will sequence dozens of genes from over 400 children with high-risk leukemia enrolled on nationwide treatment protocols. Dr. Druley intend to use that knowledge to better understand disease biology in model systems and identify new therapeutic targets.