Corporate Banner
Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

Illumina and University of Oxford to Sequence 500 Whole Human Genomes for Rare Disease Research

Published: Tuesday, January 03, 2012
Last Updated: Monday, January 02, 2012
Bookmark and Share
Opportunity to bring personalized medicine to the forefront of healthcare.

Illumina, Inc. has announced that it will collaborate with the University of Oxford to sequence the whole genomes of 500 individuals afflicted with a range of life-threatening diseases that pose major challenges in diagnosis, treatment, and care. Illumina HiSeq™ 2000 systems will be used to generate sequence data for the 500 genomes.

Clinicians and geneticists at Oxford will analyze the data generated by Illumina's technology to evaluate patients' genomes in an effort to identify mutations that may be validated, used to diagnose their diseases, and inform potential treatment options.

As a prelude to this effort, the team solicited cases from the Oxford clinical community to gain insight into the range of patients and diseases that might benefit most directly from whole-genome sequencing.

The project will focus primarily on cancer, immunological disorders, and rare Mendelian diseases, all involving mutations that would be difficult or impossible to discover by standard genetic tests.

"This collaboration represents a remarkable and very important step toward using whole-genome sequencing for translational medicine - where a patient's individual genetic information can be used to make key healthcare decisions," said David Bentley, Vice President and Chief Scientist at Illumina.

Bentley continued, "We are excited to be working with Oxford on this effort. This collaboration also will help Illumina advance its technology to better meet the specific needs of clinical environments."

The team believes that the collaboration will demonstrate the enormous value that next-generation sequencing holds for clinical research, as it empowers clinicians and geneticists to evaluate the genetic basis of diseases with a previously unmatched level of precision.

The collaboration has already had its first exciting information obtained by sequencing the genomes of a family revealed a de novo genetic mutation hypothesized to be responsible for a life-threatening cranial developmental defect in a four-year-old girl.

Oxford clinicians have been able to use the whole-genome sequence information to identify mutations that, when validated, enable them to properly diagnose the disorder, evaluate potential healthcare options, and provide her family with genetic counseling.

"This case demonstrates the great potential of next-generation sequencing technology to elucidate the underlying genetic causes of disorders that are difficult to diagnose," said Professor Peter Donnelly, Director of the Wellcome Trust Centre for Human Genetics at the University of Oxford.

Professor Donnelly continued, "Our collaboration with Illumina, studying over a hundred different diseases, will allow us to explore the value of whole-genome sequencing in clinical medicine in informing diagnosis and treatment decisions for patients. The initiative represents a crucial step as we move towards a new healthcare paradigm in which genetic information from next-generation sequencing is likely to become much more widely used in routine medical practice."

As part of the collaboration, Illumina will sequence 100 genomes at its Chesterford site in the U.K. The remaining 400 genomes will be sequenced using HiSeq 2000 systems at the Wellcome Trust Centre for Human Genetics in Oxford.

Illumina is also working to bring whole-genome sequencing to patients worldwide through our Individual Sequencing Service (IGS), featuring the Company's CLIA certified / CAP accredited clinical services laboratory.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,600+ scientific posters on ePosters
  • More Than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Illumina Files Patent Infringement Suit in the UK Against Premaitha Health
Suit is filed for Infringement of NIPT Patents.
Monday, March 16, 2015
Illumina Revenues Jump 35 Percent
Company’s Third Quarter 2014 Results Announced.
Tuesday, October 21, 2014
Initial Companies Focused on Breakthrough Applications in Therapeutics, Agriculture, and Molecular Pathology
The selection of three startup companies for the inaugural Illumina Accelerator funding cycle are announced.
Wednesday, October 15, 2014
Illumina's HiSeq X Ten Sequencing Technology for Population Studies
Next-generation sequencing technologies to be implemented at new High-Throughput Genomics Center for the MENA region.
Tuesday, July 22, 2014
Illumina Announces Pricing of Convertible Senior Notes
The Notes are being offered to qualified institutional buyers pursuant to Rule 144A under the Securities Act of 1933, as amended (the "Securities Act").
Monday, June 09, 2014
Novogene Acquires an Illumina HiSeq X Ten Sequencing System
First-in-China deal Iincreases Novogene's investment in Illumina's Next-Generation Sequencing technology.
Thursday, February 13, 2014
Illumina Announces Recipients of Agricultural Greater Good Initiative Grants
Expanded program focuses on improving food security and furthering agricultural sustainability.
Wednesday, January 16, 2013
Illumina Awarded FDA Contract for NGS Technology to Identify Foodborne Pathogens
Agency selects MiSeq® system for program to explore NGS as mechanism to enhance food safety.
Wednesday, September 19, 2012
The Broad Institute Joins the Illumina Genome Network
Partnership expands the network’s capabilities to enable sequencing of previously inaccessible samples.
Tuesday, June 05, 2012
Cold Spring Harbor Laboratory Joins the Illumina Genome Network
Partnership expands access to large-scale whole genome sequencing.
Monday, May 28, 2012
Macrogen, Inc. Increases Investment in Illumina’s Next-Generation Sequencing Technology
New purchase includes ten HiSeq 2000®Systems, HiSeq 2500® upgrades, and two MiSeq®Systems.
Thursday, March 22, 2012
Illumina Comments on Roche’s Unsolicited Tender Offer Extension
Roche to acquire all outstanding shares of Illumina for $44.50 in cash per common share.
Monday, February 27, 2012
Illumina's Board Unanimously Rejects Roche's Unsolicited Tender Offer
Urges stockholders not to tender their shares, company considers offer inadequate.
Wednesday, February 08, 2012
BCCA Joins the Illumina Genome Network
Network expansion making affordable, high quality whole human genome sequencing services accessible world-wide.
Friday, January 20, 2012
Illumina Appoints Marc Stapley as Senior Vice President and CFO
Stapley brings multi-national experience in high-growth and mature industries.
Thursday, January 05, 2012
Scientific News
Researchers Develop Classification Model for Cancers Caused by KRAS
Most frequently mutated cancer gene help oncologists choose more effective cancer therapies.
Fixing Holes in the Heart Without Invasive Surgery
UV-light enabled catheter is a medical device which represents a major shift in how cardiac defects are repaired.
Chromosomal Chaos
Penn study forms basis for future precision medicine approaches for Sezary syndrome
Enzyme Malfunction May be Why Binge Drinking Can Lead to Alcoholism
A new study in mice shows that restoring the synthesis of a key brain chemical tied to inhibiting addictive behavior may help prevent alcohol cravings following binge drinking.
Key to Natural Detoxifier’s Reactivity Discovered
Results have implications for health, drug design and chemical synthesis.
New Treatment for Obesity Developed
Researchers at the University of Liverpool, working with a global healthcare company, have helped develop a new treatment for obesity.
New Protein Found in Immune Cells
Immunobiologists from the University of Freiburg discover Kidins220/ARMS in B cells and demonstrate its functions.
Will Brain Palpation Soon Be Possible?
Researchers have developed non-invasive brain imaging technique which provides the same information as physical palpation.
Shaking Up the Foundations of Epigenetics
Researchers at the Centre for Genomic Regulation (CRG) and the University of Barcelona (UB) published a study that challenges some of the current beliefs about epigenetics.
Groundbreaking Computer Program Diagnoses Cancer in Two Days
Researchers have combined genetics with computer science and created a new diagnostic technology can with 85 per cent certainty identify the source of the disease and thus target treatment and, ultimately, improve the prognosis for the patient.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,600+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos