Illumina To Conduct Large-Scale Genotyping Study for North American Rheumatoid Arthritis Consortium

20-Sep-2004

Illumina, Inc. announced that it has signed a commercial agreement to conduct an extensive, two-phase genotyping study for the North American rheumatoid arthritis Consortium (NARAC) to identify genes associated with this complex and debilitating disease. The NARAC study will be led by Peter K. Gregersen, M.D., who directs the Robert S. Boas Center for genomics & Human Genetics at the Institute for Medical Research (Manhasset, NY), part of the North Shore-Long Island Jewish Health System. Dr. Gregersen is also the Principal Investigator of the Multiple Autoimmune Disease Genetics Consortium, an NIH-funded effort to identify common genes that underlie autoimmune diseases.

Rheumatoid arthritis (RA) is a chronic autoimmune disease that affects 2.1 million Americans -- roughly 1% of the population -- and is characterized by painful inflammation of the joints. RA is complex: there is a genetic component that confers disease susceptibility, coupled with additional components including environmental factors that activate RA-related genes implicated in the disease. The scale of the study is consistent with the complexity of the disease: over 25 million genotypes will be generated by Illumina and analyzed by Dr. Gregersen and colleagues.

"Illumina played an active and collaborative role in experimental design," stated Dr. Gregersen. "We were particularly pleased with the recommendation to break the study into two, back-to-back components. This will enable us to perform extensive data analysis using Illumina's Linkage IV mapping panel and then quickly develop a custom SNP panel for more detailed follow-on studies." Phase One of the RA study will involve genetic mapping of over 3125 samples using Illumina's standard Linkage IV single nucleotide polymorphism (SNP) Panel, which includes over 5800 SNP markers distributed evenly across the genome. Phase Two will involve development of a custom panel of SNP loci for dense mapping of specific candidate gene regions identified in Phase One.

"Enabling the life science community to expand understanding of the genetic cause of disease is a core application of our BeadArray technology platform," commented Jay Flatley, Illumina President and CEO. "We're very pleased to work with Peter Gregersen and his NARAC collaborators and we look forward to contributing meaningfully to a growing body of knowledge about rheumatoid arthritis and related diseases."

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