University of Cambridge, Genomics England Ltd., and Illumina Collaborate to
Sequence 10,000 Whole Human Genomes for National Health Service Patients
Project Will Lay Foundation for Genomic Medicine
Initiative Will Sequence 10,000 Whole Genomes of People with Rare Genetic
CAMBRIDGE, England -- October 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 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
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.
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 Research
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 Centre
(http://www.cambridge-brc.org.uk/) 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 Health.
Illumina (www.illumina.com) 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
University 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 01 7464
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