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Roche and SeqWright Collaborate to Help Elucidate the Underlying Genetic Causes of Heart Disease

(PresseBox) (Branford, USA, ) Utilizing next generation sequencing and the latest advancements in sequence capture, SeqWright, a world-wide leader in custom genomic and molecular biology services, has announced a collaboration with Roche Applied Science and the University of Miami Miller School of Medicine. The research focuses on a major study to help identify possible genetic variants associated with dilated cardiomyopathy, a disease of heart muscle. In this collaboration SeqWright used NimbleGen Sequence Capture Human Exome Arrays to enrich over 180,000 exons from DNA samples from individuals affected with dilated cardiomyopathy. Using the Genome Sequencer FLX, a technology of 454 Life Sciences, SeqWright is sequencing the enriched exons to detect genetic variants within these samples, including single nucleotide polymorphisms (SNP's) and insertions and deletions. The complete solution from Roche allows targeted re-sequencing of all of the coding exons, called the human exome, representing the portion of the human genome that is transcribed and translated into the myriad of proteins that function within all cells in the human body.

"Sequencing the entire coding portion of the human genome has not been feasible until recent advancements in next generation genomic tools. By being able to efficiently characterize the entire human exome, researchers can accelerate their research by taking the 'candidate gene' approach to a completely new level," stated Fei Lu, M.D., CEO of SeqWright. "It's truly amazing to see just how fast research has transformed with these tools and I'm proud to see that SeqWright has stayed ahead of the community as we adopt these technologies almost as fast as they are developed."

"Dilated cardiomyopathy is a leading cause of heart failure that carries a high mortality rate," stated Nadine Norton, PhD, a Research Assistant Professor from the University of Miami Miller School of Medicine. "We know that familial dilated cardiomyopathy (FDC) can be explained by mutations in more than 20 autosomal and two X-linked genes, yet mutations in these genes account for only one-third of the cause. By using an experimental strategy that employs the sequencing of all coding regions within the human genome, we hope to identify other mutations in other genes that cause this terrible disease." This work is part of an ongoing 15 year study of familial dilated cardiomyopathy brought to the Miller School of Medicine in 2007 by Ray Hershberger, MD, professor of medicine and associate chief of the Cardiovascular Division. More information is available at Funding to Dr. Hershberger for this project has been provided by the NIH's National Heart Lung and Blood Institute and the Florida Heart Research Foundation.

Roche NimbleGen is a leading innovator, manufacturer, and supplier of a proprietary suite of DNA microarrays, consumables, instruments, and services. Roche NimbleGen uniquely produces high-density arrays of long oligo probes that provide greater information content and higher data quality necessary for studying the full diversity of genomic and epigenomic variation. The improved performance is made possible by Roche NimbleGen's proprietary Maskless Array Synthesis (MAS) technology, which uses digital light processing and rapid, high-yield photochemistry to synthesize long oligo, high-density DNA microarrays with extreme flexibility. For more information about Roche NimbleGen, please visit the company's website at

454 Life Sciences, a center of excellence of Roche Applied Science, develops and commercializes the innovative 454 Sequencing system for ultra-high-throughput DNA sequencing. Specific applications include de novo sequencing and re-sequencing of genomes, metagenomics, RNA analysis, and targeted sequencing of DNA regions of interest. The hallmarks of the 454 Sequencing system are its simple, unbiased sample preparation and long, highly accurate sequence reads, including paired-end reads. The technology of the 454 Sequencing system has enabled hundreds of peer-reviewed studies in diverse research fields, such as cancer and infectious disease research, drug discovery, marine biology, anthropology, paleontology and many more.

About SeqWright

Based in Houston, TX, SeqWright Incorporated is recognized as an international leader in the field of contract genomic services which includes multiple next generation sequencing platforms. With more than fifteen years of experience, SeqWright specializes in state-of-the-art Molecular Biology and Genomic services, from basic research to full clinical trials, within a highly regulated GLP/CLIA environment. SeqWright was recently awarded a license by the state of California to operate as a clinical laboratory. This license, along with CLIA certification, allows SeqWright to handle clinical samples from throughout the United States, except for the state of New York. For additional information about SeqWright and its services, please visit

Roche Diagnostics Deutschland GmbH

Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world's largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche's personalised healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients.

In 2008, Roche had over 80,000 employees worldwide and invested almost 9 billion Swiss francs in R&D. The Group posted sales of 45.6 billion Swiss francs. Genentech, United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For more information:

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