Applied Biosystems, a division of Life Technologies Corporation announced the recipient of its "What Would You Do With a $10K Genome" grant programme. This programme 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, M.D., Ph.D., 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, Florida.
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 leukaemia, 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 per cent of children affected by this disease each year will relapse. For those who do relapse, only 30 per cent 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 leukaemia relapse, and to also identify suitable molecular targets for novel therapies. The research study involves the sequencing of samples from five paediatric patients treated at St. Jude. The patients' samples were taken at three different time points, including normal tissue (germline), leukaemia cells obtained at diagnosis, and at relapse.
"To improve the outcome of relapsed acute lymphoblastic leukaemia, we must identify all mutations contributing to treatment failure," said Dr. Mullighan. "The comprehensive identification of genetic changes in tumour 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 leukaemia."
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 unparalleled 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.
Applied Biosystems is a global leader in providing innovative instrument systems to accelerate academic and clinical research, drug discovery and development, pathogen detection and forensic DNA analysis.