Applied Biosystems, a division of Life Technologies Corp announces the recipient of its “What Would You Do With a $10K Genome” grant program. This program was created to inspire new scientific approaches that employ advanced genomic technologies that are now enabling human genomes to be sequenced for as little as $10,000.
Charles Mullighan, MD, PhD, of St Jude Children’s Research Hospital received the first-prize award at the 10th annual Advances in Genome Biology and Technology meeting in Marco Island, Fla.
Dr Mullighan, an assistant member in the Department of Pathology at St Jude, was selected from more than 200 entries based upon his interest in using a next-generation sequencing approach to identify potential new therapeutic opportunities related to acute lymphoblastic leukemia, which is a cancer of white blood cells.
It is the most common form of childhood cancer, affecting one in 29,000 children annually.
Despite the dramatic increases in cure rates over the last few decades, 15% of children affected by this disease each year will relapse. For those who do relapse, only 30% will survive five years. In an effort to increase cure rates further, Dr Mullighan and his team will use Applied Biosystems’ SOLiD™ 3 System, an advanced genomic analysis platform, to develop a better understanding of the genetic abnormalities contributing to leukemia relapse, and to also identify suitable molecular targets for novel therapies.
The research study involves the sequencing of samples from five pediatric patients treated at St. Jude. The patients’ samples were taken at three different time points, including normal tissue (germline), leukemia cells obtained at diagnosis, and at relapse.
“To improve the outcome of relapsed acute lymphoblastic leukemia, we must identify all mutations contributing to treatment failure,” said Dr Mullighan. “The comprehensive identification of genetic changes in tumor cells is a major goal of cancer research, and this grant provides a tremendous opportunity to look across the genome and identify all coding mutations in this disease. Ultimately, our aim is to use this genetic information to identify new pathways and targets for therapy in relapsed acute lymphoblastic leukemia.”
As part of winning the first-prize grant, researchers from Applied Biosystems will work collaboratively with Dr. Mullighan to generate 60 gigabases or 750 million tags of sequencing data for this research project. Applied Biosystems will also perform all sample processing, data generation, and primary data analysis using the SOLiD 3 System, which is the only commercially available platform in the life science industry to provide a path to a $10,000 genome. The SOLiD 3 System will enable researchers involved in this project to detect structural variation in the genome such as novel single-base changes, or SNPs, large and small insertion/deletions, translocations, and copy number variants.
“Next-generation sequencing is helping to accelerate scientific research by providing advanced genomic solutions that will identify biological targets that will ultimately lead to the development of genetic-based therapeutics,” said Mark Stevenson, President and Chief Operating Officer of Life Technologies. “The grant program provides a collaborative opportunity to accelerate research Dr Mullighan and other scientists at the St Jude Children’s Research Hospital have already begun to ultimately advance genetic therapeutics for complex disease.”
The SOLiD System is widely used around the world in research laboratories, genome centers, core and contract service facilities, and biotechnology and pharmaceutical companies. Researchers are utilizing the SOLiD technology for a variety of advanced genomics research, including resequencing for disease studies, transcriptome analysis, de novo sequencing, and methylation profiling.
The newest release of the platform – the SOLiD 3 System – offers high throughput at 40 gigabases per sequencing run, the highest data accuracy at 99.94%, due to 2-base encoding algorithms, and integrated application workflows. The SOLiD 3 System will ultimately enable scientists to sequence a human genome for less than $10,000 dollars in 2009, with a roadmap that will increasingly drive capabilities toward the $1,000 genome milestone.