Next-Generation SOLiD™ System to Help Researchers Identify Genes Associated with Autism

Genetics researchers at the University of Miami Miller School of Medicine’s John P. Hussman Institute for Human Genomics will embark on the next phase of their search for genes that cause autism. By forming a collaboration with Life Technologies Corporation (NASDAQ: LIFE), the institute will apply the latest genomic sequencing technology to its extensive autism family dataset to begin one of the first large-scale sequencing projects of its kind. The autism genetics research team at the Hussman Institute for Human Genomics is led by Margaret A. Pericak-Vance, Ph.D. along with senior co-investigators John R. Gilbert, Ph.D., and Michael L. Cuccaro, Ph.D.

In April 2009, the autism team at the Hussman Institute for Human Genomics and their collaborators at Vanderbilt University Medical Center identified the first common genetic variant for autism which was simultaneously identified in an independent dataset at Children’s Hospital of Philadelphia. Results from the joint genome wide association study (GWAS) of thousands of individuals with autism and their family members unaffected by autism, showed several interesting areas of association and one highly significant association between autism and a region on chromosome 5 that is surrounded by two genes known as cadherin 10 and cadherin 9. Both genes encode neuronal cell-adhesion molecules making them excellent candidates for autism risk genes. “Our GWAS pointed us to areas of association like the one on chromosome 5” said Dr. Pericak-Vance. “We intend to use next generation sequencing to further understand what is happening in these loci that confers risk for autism.”

The majority of recent genomic research has used genotyping technology to acquire data for analysis in disease gene detection studies. In spite of its ability to map a million genetic markers in a single individual, genotyping can only obtain partial information. Sequencing allows researchers to extract the DNA code from which derives all necessary information for the life of an organism. “What we’ve been able to do with genotyping has been phenomenal, but it only gives us a portion of the information we need to identify and understand the genetic causes underlying human disease. Sequencing gets to those causes,” said Dr. Gilbert.

As part of its mission to support collaborative research across the University of Miami, the Hussman Institute for Human Genomics houses cutting edge genomic technology and expertise. To keep pace with the constantly innovative field, the institute purchased two next-generation sequence systems from Applied Biosystems, part of Life Technologies. The two SOLiD™ System sequencing platforms will be initially used to sequence regions of DNA from families and individuals with autism, followed up later with the investigation of additional disorders by researchers at the University of Miami Miller School. Next-generation sequencing technology enables large-scale sequencing projects, such as the autism project, both in terms of efficiency and economic feasibility. According to Mark Stevenson, President and Chief Operating Officer of Life Technologies, “The application of advanced genomic analysis technologies for autism research demonstrates the ability to better understand the genetic mutations impacting the development of the disorder in an efficient, cost-effective and accurate manner.”

Hussman Institute for Human Genomics researchers will be applying next-generation sequencing technology to investigate genes that showed association with autism in their genome wide study. The data from this approach will provide more focused and specific evidence for implicating genes responsible for autism risk and will give researchers more clues about how they confer that risk. By combining the high throughput and accuracy of SOLiD™ System sequencing with the extensive autism dataset and using results from the genome wide study to focus their search, the Hussman Institute for Human Genomics autism team will create new knowledge about autism genetics that will some day lead to improvements in the diagnosis and treatment of the disorder.