Project Will Lay Foundation for Genomic Medicine
Initiative Will Sequence 10,000 Whole Genomes of People with Rare
CAMBRIDGE, England--(BUSINESS WIRE)--Oct. 21, 2013--
University of Cambridge, Genomics England Ltd., and Illumina, Inc.
(NASDAQ:ILMN) today 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
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
“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
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.
About the University of Cambridge
The University of Cambridge was established over 800 years ago and is
made up of 31 colleges and more than a hundred departments. Cambridge is
one of the top-ranking universities in the world. Its mission is to
contribute to society through the pursuit of education, learning, and
research at the highest international levels of excellence. At the heart
of that mission are its core values of freedom of thought and expression
and freedom from discrimination.
The University of Cambridge (http://www.cam.ac.uk/)
has been the birthplace and touchstone for many of the most significant
scientific breakthroughs since science began. After Cambridge celebrated
its eight hundredth anniversary year in 2009 its eyes are firmly on the
future, and ensuring that the modern University continues to be a
leading international centre for study and research. Find out more at www.cam.ac.uk.
About Cambridge University Hospitals and the Cambridge Biomedical
Based within the most outstanding NHS and University partnerships in the
country, the NIHR Biomedical Research Centres are leaders in scientific
translation. They receive substantial levels of funding from the
National Institute for Health Research (NIHR) to translate fundamental
biomedical research into clinical research that benefits patients and
they are early adopters of new insights in technologies, techniques, and
treatments for improving health. The Cambridge Biomedical Research
coordinates the NIHR BioResource.
About Genomics England Ltd.
Genomics England (www.genomicsengland.co.uk)
was incorporated on 17 April 2013 as a company to take forward the Prime
Minister’s 100,000 Genome Project. The Project will introduce high-tech
DNA mapping for rare diseases patients and those with cancer or
infectious diseases and link that new data to the patient’s medical
records. This will give doctors a new advanced understanding of a
patient’s genetic make-up, condition, and treatment needs, ensuring they
have access to the right drugs and personalised care far quicker than
ever before. Genomics England Limited is owned by the UK Department of
is a leading developer, manufacturer, and marketer of life science tools
and integrated systems for the analysis of genetic variation and
function. We provide innovative sequencing and array-based solutions for
genotyping, copy number variation analysis, methylation studies, gene
expression profiling, and low-multiplex analysis of DNA, RNA, and
protein. We also provide tools and services that are fueling advances in
consumer genomics and diagnostics. Our technology and products
accelerate genetic analysis research and its application, paving the way
for molecular medicine and ultimately transforming healthcare.
About Birmingham Children’s Hospital
Birmingham Children’s Hospital NHS Foundation Trust provides the widest
range of children’s health services for young patients from Birmingham
the West Midlands and beyond, with over 240,000 patient visits every
year. The Trust is the lead site for the national NIHR paediatric rare
disease programme, a nationally designated specialist centre for
epilepsy surgery and a trauma centre for the West Midlands and a
national transplant centre. The hospital is a centre of excellence for
complex heart conditions, the treatment of burns, cancer, and liver and
kidney disease, and is also home to one of the largest Child and
Adolescent Mental Health Services in the UK.
This release may contain forward-looking statements that involve risks
and uncertainties. Important factors that could cause actual results to
differ materially from those in any forward-looking statements are
detailed in our filings with the Securities and Exchange Commission,
including our most recent filings on Forms 10-K and 10-Q, or in
information disclosed in public conference calls, the date and time of
which are released beforehand. We do not intend to update any
forward-looking statements after the date of this release.
Source: Illumina, Inc.
of Cambridge Contact:
University of Cambridge
Deputy Head of Research Communications
Office of External
Affairs and Communications
+44 (0) 1223 76 5542
+44 (0) 7774