The introduction of “next-generation” sequencing technology has revolutionized the field of DNA sequencing as evidenced by the 500-fold drop in cost over the past 4 years; a trend that is expected to continue. The mission of the CDI to “accelerate the realization of better treatments, cures, and preventions” is dependent upon understanding the genetic underpinnings of complex pediatric disease. Many CDI-funded investigators, in all four of its Centers, are focused on exactly these questions. For these efforts to fluorish in today’s competitive environment, access to next-generation sequencing technology is essential. The first year of this award will be devoted to working with Cofactor Genomics in St. Louis to gain knowledge and expertise with next generation systems and the generated data. Following that, the Children's Discovery Institute will purchase the next-generation sequencer that will provide the most benefit to its investigators. This device will be housed on campus to ensure that Discovery Institute investigators continue to have access to the necessary technology that truly enables real breakthroughs in pediatric disease.

The advent of “next-generation” DNA sequencing has provided the ability to cost-effectively survey either huge regions of the human genome or entire genomes from any number of organisms and link the resulting data to a particular disease state. In order to introduce this new technology at very reasonable prices and with high-level technical support, the Children's Discovery Institute has funded this project, which launched on September 1, 2009. To date, nearly 60% of eligible Institute-funded investigators have utilized the service to study the genetic underpinnings of a wide range of pediatric diseases and public health concerns. These include sequencing the entire genome of drug-resistant malaria, sequencing an entire yeast genome, and selectively sequencing every gene (over 20,000) in over 25 human patients. From these large human DNA sequencing projects, we expect to identify the genes responsible for fetal brain development, normal kidney and bladder development, specific severe spinal deformities, and the normal interaction between the nervous and muscular systems. The results of these projects will provide new genetic understanding that will impact pediatric and public health worldwide. We are delighted with the success of this initiative thus far, which would not have been possible without the support of the Children's Discovery Institute.