Illumina and University of Oxford to Sequence 500 Whole Human Genomes for Rare Disease Research
August 03 2011 - 3:01AM
Business Wire
Illumina, Inc. (NASDAQ:ILMN) today announced 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. “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
breakthrough―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. “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. Please visit www.everygenome.com for more
details.
About Illumina
Illumina (http://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.
Forward-Looking Statements
This release contains forward-looking statements that involve
risks and uncertainties, including statements we make regarding the
ability of the collaboration to demonstrate the value that
next-generation sequencing holds for clinical research. 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.
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