A Diagnostics & Imaging Week

Illumina (San Diego) and Affymetrix (Santa Clara, California) reported that Germany’s National Genome Research Network (NGFN) has selected Illumina products to conduct what it said is one of the world’s largest genetic research projects to date.

The NGFN consists of a team of researchers from more than 10 institutions around the country who will work on standardizing the set of controls, protocols and analysis tools for whole-genome association studies. Results of the studies will flow into a database accessible to both researchers from academia and the pharmaceutical industry.

Additionally, NGFN has selected the Genome-Wide Human SNP Array 5.0 from Affymetrix to genotype more than 17,000 individuals. The company said access to this detailed genetic information will help researchers understand the underlying causes and develop more effective treatments for 25 complex diseases, including Alzheimer’s, epilepsy, heart diseases, malaria and Parkinson’s.

The NGFN will use the new SNP Array 6.0 from Affymetrix when it becomes available later this year.

Illumina’s Infinium HumanCNV370-Duo, HumanHap300-Duo, and HumanHap550 BeadChips will be used by scientists to genotype 8,000 patients and controls to investigate genetic variations to better understand underlying causes of 25 complex diseases. Diseases to be studied in the NGFN project include several mental health diseases such as bipolar disease and schizophrenia, in addition to Parkinson’s disease, Alzheimer’s disease, alcohol addiction, inflammatory bowel disease and psoriasis.

“Genome-wide association studies will provide the life science community with genetic maps for some of the most complex diseases,” said Professor Stefan Schreiber of the University of Kiel. He added that the NGRN “aims to drive this analysis to a meta-level above single [indication] phenotypes and thus understand genetic risk as an overarching susceptibility for general processes like inflammation, degeneration, or cancer.

“With this large-scale project, we hope to encourage the launch of further projects of this kind. Our aim is to discover how similar diseases are linked in order to identify genes related to multiple diseases. In near time, the global community will have the chance of a joint analysis across countries using multiple association samples. The ability to analyze large sample cohorts such as these with cutting-edge technologies is crucial to understanding complex genetics.”

The researchers will compare patients’ data with the data of healthy individuals to identify genetic variations and differences associated with the diseases, ultimately aiding in the development of better treatment options. They will seek to identify the genetic roots of longevity in order to understand the principles of the aging process and identify new approaches for age-related diseases.

Illumina CEO Jay Flatley said, “In accelerated timeframes, the HumanHap300-Duo and HumanHap550, two of the three Infinium BeadChips to be used in the NGFN study, have been used to identify novel variants linked to complex conditions such as Type 2 diabetes, Crohn’s disease, Parkinson’s disease and Lou Gehrig’s disease.”

In addition to Illumina’s HumanHap300-Duo and HumanHap550 BeadChips, which can detect up to 317,000 and 550,000 genetic variations on a single BeadChip, respectively, the company’s new HumanCNV370-Duo BeadChip will be used as part of the NGFN study. That BeadChip contains 15,000 non-polymorphic probes and is designed to interrogate novel copy number variation regions. With the HumanHap300-Duo and HumanCNV370-Duo, researchers will use the dual-sample formats to simultaneously type a disease sample and a normal sample, allowing direct comparison of data, eliminating array-to-array variability.

NGFN was initiated by the German Federal Ministry for Education and Research. Its latest project builds on an initial project focused on developing a control cohort database that would be free and available to the public.

The database is enabling researchers to reduce the number of required control samples and increase the genetic power by adding age- and sex-matched controls from similar ethnic backgrounds.

As a result of this project and others around the world, the Affymetrix Control Program is now the world’s largest population genetics resource, containing genotype data from more than 12,000 samples.

The Affymetrix SNP Array 5.0 was developed to help researchers better identify and understand the genetic variations associated with complex diseases, such as autism, bipolar disease, cancer, diabetes and heart disease. The SNP Array 5.0 features single nucleotide polymorphisms (SNPs) from the original Affymetrix two-chip 500K Array Set, as well as 420,000 additional probes that can measure other genetic differences, such as copy number variation.