Illumina partners with Center for Inherited Disease to study type 2 diabetes

By E. Janene Geiss

Philadelphia, Jan. 11 - Illumina, Inc. said that it is partnering with the Center for Inherited Disease Research to use the Sentrix HumanHap300 BeadChip and Infinium Assay for a pilot study of type 2 diabetes.

One goal of this study is to evaluate the Illumina technology for possible adoption as the standard platform for the center's genome-wide association service to be offered to the scientific community in the spring of 2006, according to a company news release.

The center is working with Illumina to genotype over 2,500 case-control samples provided by the Finland-United States Investigation of NIDDM Genetics (Fusion) Study, an international research collaboration.

Funded by the National Institutes of Health, the goal of the Fusion team is to map and identify genetic variants that predispose individuals to type 2 diabetes, officials said.

As part of its technology evaluation efforts, the center will use the Sentrix HumanHap300 BeadChip to query over 317,000 tagSNPs on a single microarray device.

The new BeadChip is powered by Illumina's Infinium Assay, which enables the intelligent selection and analysis of virtually any SNP in the genome, officials said.

The high statistical value of the SNP loci in the HumanHap300 enables researchers to achieve the most comprehensive genomic coverage of any array on the market, officials said. The HumanHap300 delivers industry-leading data quality, with call rates exceeding 99%, and reproducibility and Mendelian accuracy both greater than 99.9%, according to officials.

"This pilot study gives us an opportunity to investigate and evaluate a promising genotyping platform that takes advantage of HapMap DNA markers that were designed to maximize our ability to identify associations between diseases and particular DNA variants. We chose type 2 diabetes for this evaluation effort because of the wealth of existing genetic data about the disease and the strength of the statistical and analytical expertise of the investigators involved in the Fusion project," David Valle, the center's director and professor at the Institute of Genetic Medicine at Johns Hopkins University, said in a company news release.

Type 2 diabetes is a common, complex disease characterized by inadequate insulin production and resistance of body tissues to insulin, resulting in elevated levels of blood sugar and increased risk of damage to the eyes, heart, blood vessels, nervous system and kidneys. It is estimated that yearly diabetes-related medical expenditures in the U.S. alone are approaching $150 billion, officials said.

The design of subsequent phases, partly dependent on phase 1 data analysis and findings, will include increasingly "granular" approaches for analyzing disease-related haplotypes and then identifying SNP variants that exhibit statistical correlation to the disease.

This information will help identify at-risk individuals and point the way to new drug targets and therapies and strategies for disease prevention, officials said.

Illumina, based in San Diego, develops and markets next-generation tools for the large-scale analysis of genetic variation and function.

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