Roche and Oxford University: Cooperation to Evaluate 454 Sequencing and NimbleGen High-Density Arrays for Genetic Disease Analysis

Roche Diagnostics Ltd. today announced that they will support the Oxford Biomedical Research Centre (OxBRC) - a partnership between the Oxford Radcliffe Hospitals NHS Trust and University of Oxford - in the development of solutions enabling improved genetic and cytogenetic testing. Using the next-generation sequencing technology of 454 Sequencing and high-density arrays of Roche NimbleGen, the Oxford BRC will work on improved solutions for the analysis of genetic diseases.

The OxBRC undertakes “translational research” - taking research from the lab bench to the bedside. This involves translating basic research, done on a molecular or cellular level, to a clinical or patient-level, therefore driving medical innovations that are intended to improve healthcare delivery for the benefit of all patients.

In the course of their research project, Oxford will install several 454 Genome Sequencer FLX systems, a next-generation sequencing platform characterized by long, highly accurate reads. In conjunction with 454 Sequencing, Oxford will employ NimbleGen arrays as a preparative tool for sequencing (Sequence Capture) and genome-wide detection of copy number variation (CGH). The marriage of these new innovative technologies for clinical genetic testing will be thoroughly evaluated and are believed to provide significant advantages over current methods. Clinically documented samples ascertained for selected diseases will be tested in three areas:

• sequencing of several genes known for private familial mutations (454 Sequencing)
• mutation screening in a large number of genes (454 Sequencing and NimbleGen Sequence Capture Arrays)
• identification of genes and regions with genomic imbalances (NimbleGen CGH Arrays)

Manfred Baier, Head of Roche Applied Science, said, “We are very interested to further evaluate the potential of our technologies for medical applications. During the last few years we have seen many publications in high ranking scientific journals that illustrate impressively the potential of 454 Sequencing and NimbleGen arrays in analyzing diseases.”

Professor Alastair Buchan, Director of the Oxford Biomedical Research Centre added: “Next generation sequencing and high density arrays are novel technologies with considerable clinical potential. Evaluation of these fits well with our strategy of driving innovation and translational research in medicine and we are very pleased to be working with Roche to evaluate these platforms.”