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

Project Lays Foundation for Genomic Medicine

Published: Monday, October 21, 2013
Last Updated: Monday, October 21, 2013
Bookmark and Share
The University of Cambridge, Genomics England Ltd. and Illumina collaborate to sequence 10,000 whole human genomes for NHS patients.

University of Cambridge, Genomics England Ltd., and Illumina, Inc. announced the start of a three-year project that will sequence 10,000 whole genomes of children and adults with rare genetic diseases. The project represents a pilot for Genomics England Ltd., which will provide 2,000 samples, and marks the beginning of the national endeavor to sequence 100,000 genomes in the UK National Health Service (NHS), announced recently by the Prime Minister, David Cameron. 

"This project will bring enormous improvements to the care of patients with rare genetic diseases. It will shorten the gap between the first signs of ill-health in a person and providing a conclusive diagnosis by using the power of modern DNA sequencing methods," said Dr. John Bradley, Director of the NIHR Cambridge Biomedical Research Centre, a partnership between the University of Cambridge and Cambridge University Hospitals. 

Today, most patients with a rare genetic disease go through a diagnostic odyssey to find the cause. For many, the long search remains unsuccessful, which not only prevents the delivery of optimal care, but also may aggravate the condition. To improve patient care in the UK National Health Service (NHS), the University of Cambridge will work with the team led by Dr. David Bentley, Vice President and Chief Scientist for Illumina, to develop the workflow and processes to bring routine clinical whole genome sequencing to the bedside. 

Illumina will deliver whole genome sequence data for the project using market-leading technology invented in Cambridge. "In 1997 sequencing a person's entire genome as part of healthcare was just an idea and it has always been my hope that one day it would turn into reality and benefit thousands of patients," said Shankar Balasubramanian, Professor of Chemistry at Cambridge University and inventor of the sequencing by synthesis technique that is used by Illumina's instruments to read the DNA code. 

"We are excited to be partnering in this ground-breaking project to discover the genes underlying rare genetic diseases, which may lead to offering new tests and pave the way for new opportunities for treatment," said Professor Mark Caulfield, Genomics England's Chief Scientist. 

There are an estimated 7,000 rare diseases and about 3.5 million people in the UK will be affected by a rare disease at some point in their life. 

"I am confident that the pioneering medical research by doctors, nurses, and scientists across the UK will receive broad support from the rare diseases community," said Alastair Kent from Rare Diseases UK. 

Sarah-Jane Marsh, Chief Executive at Birmingham Children's Hospital, added, "More than 5 percent of babies are born with a genetic disease. At the moment, too many of the affected families are unable to access the best diagnostics and treatment available." 

The Rare Diseases Genomes Project will help to address this gap, and make the NHS a world leader in rare disease care. The cumulative knowledge which will be gained from collecting this data will improve treatment for many patients in the NHS and across the world. 

Further Information

Join For Free

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 3,500+ scientific posters on ePosters
  • More than 5,100+ 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

ArcherDX, Illumina Launch Collaboration
Agreement to bring multiple Archer® assays through the FDA approval process.
Tuesday, May 31, 2016
Illumina Invests In New Venture Fund
Illumina will commit $100M over 10 years to drive genomic technology development.
Friday, April 15, 2016
Berry, Illumina Co-Develop NGS System for CFDA Review and Approval
Berry Genomics will use Illumina’s NGS technology to secure Chinese Food and Drug Administration regulatory approval for clinical applications, expanding access to NGS-based tests in China.
Monday, July 21, 2014
Illumina Reports Record Financial Results for Fourth Quarter and Fiscal Year 2012
Revenue of $309 million, a 24% increase compared to $250 million in the fourth quarter of 2011.
Tuesday, January 29, 2013
VWR International, LLC to Distribute Illumina’s qPCR Portfolio
Dramatically expands sales reach within U.S. market.
Monday, November 12, 2012
Scientific News
Point of Care Diagnostics - A Cautious Revolution
Advances in molecular biology, coupled with the miniaturization and improved sensitivity of assays and devices in general, have enabled a new wave of point-of-care (POC) or “bedside” diagnostics.
Transgenomic, Precipio Diagnostics Merger
Merger will creates a robust diagnostic platform focused on improving accuracy of cancer diagnoses.
3D-Printing in Science: Conference Co-Staged with LABVOLUTION
LABVOLUTION 2017 will have an added highlight of a simultaneous conference, "3D-Printing in Science".
Analysing 10,000 Cells Simultaneously
New techniquethat traps 10,000 cells on a single chip has potential for cancer screening for individuals.
Genetic Tug of War Before Cells Decide Fate
Researchers report that as developing blood cells are triggered by genetic signals firing on and off, a 'tug of war' occurs.
$1M NIH Grant to Refine PCR Based Cancer Test
Researchers at Cornell University, Weill Cornell Medicine, the University of California, San Francisco, and the Infectious Diseases Institute in Kampala, Uganda, recieve a four-year, $1 million grant to hone technology for a quick, in-the-field diagnosis of Kaposi's sarcoma — a cancer frequently related to HIV infections.
Linkage Biosciences Awarded NHS Contract
Comapny announces that it has been awarded a four-year contract by NHS Blood and Transplant (NHSBT) in the UK for implementation of the LinkSeq™ Real-Time PCR HLA typing product.
Understanding Tumor Evolution
Study provides insight into tumor evolution; may point to improved diagnosis and treatment.
Frankfurter Fraud: Finding Out What’s In Your Hot Dog
Scientists have developed a technique to test the meat content of Frankfurters.
How Cloud Connectivity Can Combat the Reproducibility Crisis
This infographic explains the reproducibility crisis, and how cloud connectivity can help overcome this problem.
Skyscraper Banner

SELECTBIO Market Reports
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
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,100+ scientific videos