European Research Initiative Adopts PacBio Sequel II System to Solve Rare Diseases
September 05 2019 - 7:30AM
Pacific Biosciences of California, Inc. (Nasdaq:PACB), a leading
provider of high-quality sequencing of genomes, transcriptomes and
epigenomes, today announced that its Single Molecule, Real-Time
(SMRT®) Sequencing technology has been selected by the European
research program SOLVE-RD to help reveal the genetic mechanisms
responsible for rare genetic diseases. As part of this work,
scientists will sequence more than 500 whole human genomes with the
PacBio Sequel II System to pinpoint disease-causing variants.
Around the world, some 350 million people have a rare disease1.
The vast majority of these diseases have a genetic cause, but many
have not yet been linked to the specific genetic deleterious
element(s) responsible for the disease. The SOLVE-RD research
program, a consortium of >20 institutions funded with a
five-year, €15 million award from the European Union’s Horizon 2020
initiative, aims to improve the diagnosis and treatment of rare
diseases by applying novel tools to cases that were not solved with
short-read exome sequencing.
“Even with exome sequencing, as many as 50% of rare disease
cases remain unsolved,” said Alexander Hoischen, Associate
Professor for Genomic Technologies and Immuno-Genomics and a member
of the SOLVE-RD team, at Radboud University Medical Center. “The
SOLVE-RD team believes that long-read SMRT Sequencing will be
essential for discovering the causal elements that have proven
elusive with previous approaches, and we anticipate that this
research will ultimately make it easier for doctors to diagnose
other patients with these rare diseases in the future.”
Marcel Nelen, Laboratory Specialist in Genome Diagnostics at
Radboud University Medical Center, commented: “Our team is eager to
deploy PacBio’s Sequel II System to generate hundreds of
high-quality human genomes for phenotypes very likely to be
associated with challenging genomic regions or structural variants
including repeat expansions. In our experience, SMRT Sequencing
reliably detects far more structural variants — including
pathogenic variants — than any other sequencing technology.”
Structural variants are increasingly being recognized as the
cause of many rare diseases, but these large genomic elements are
often undetectable with short-read sequencing tools due to their
length and repetitive content. Structural variation affects more
base pairs of the human genome than single nucleotide variants and
small insertions and deletions combined. With its extraordinarily
long reads, SMRT Sequencing detects structural variants with high
precision and recall, even at low coverage.
“SMRT Sequencing has already helped scientists untangle
previously unsolvable cases of rare disease, and we believe it will
provide exciting new answers for many of the medical mysteries
targeted by this program,” said Jonas Korlach, PhD, Chief
Scientific Officer at PacBio. “We congratulate the SOLVE-RD team
for securing the funding to perform this important work and look
forward to the many new scientific discoveries they will make with
PacBio’s highly accurate, long-read sequencing technology.”
Alexander Hoischen will speak more about this project and
long-read sequencing at this week’s AGBT Precision Health meeting
in La Jolla, Calif. His presentation will take place on Saturday,
Sept. 7th, at 10 am PDT.
Reference
1. https://globalgenes.org/rare-facts/
About Pacific Biosciences
Pacific Biosciences of California, Inc. (NASDAQ:PACB)
offers sequencing systems to help scientists resolve genetically
complex problems. Based on its novel Single Molecule, Real-Time
(SMRT®) technology, Pacific Biosciences’ products enable: de
novo genome assembly to finish genomes in order to more fully
identify, annotate and decipher genomic structures; full-length
transcript analysis to improve annotations in reference genomes,
characterize alternatively spliced isoforms in important gene
families, and find novel genes; targeted sequencing to more
comprehensively characterize genetic variations; and real-time
kinetic information for epigenome characterization. Pacific
Biosciences’ technology provides high accuracy, ultra-long reads,
uniform coverage, and the ability to simultaneously detect
epigenetic changes. PacBio® sequencing systems, including
consumables and software, provide a simple, fast, end-to-end
workflow for SMRT Sequencing. More information is
available at www.pacb.com.
Forward-Looking Statements
All statements in this press release that are not historical are
forward-looking statements, including, among other things,
statements relating to the attributes of the Sequel II System, the
future availability, uses, accuracy, quality or performance of, or
benefits of using, products or technologies, the suitability or
utility of methods, products or technologies for particular
applications, studies or projects, the importance of long-read
sequencing data, the expected benefits of the SOLVE-RD research
program or other sequencing projects, and other future events. You
should not place undue reliance on forward-looking statements
because they involve known and unknown risks, uncertainties,
changes in circumstances and other factors that are, in some cases,
beyond Pacific Biosciences’ control and could cause actual results
to differ materially from the information expressed or implied by
forward-looking statements made in this press release. Factors that
could materially affect actual results can be found in Pacific
Biosciences’ most recent filings with the Securities and
Exchange Commission, including Pacific Biosciences’ most recent
reports on Forms 8-K, 10-K and 10-Q, and include those listed under
the caption “Risk Factors.” Pacific Biosciences undertakes no
obligation to revise or update information in this press release to
reflect events or circumstances in the future, even if new
information becomes available.
ContactsMedia: Nicole Litchfield415.793.6468
nicole@bioscribe.com
Investors:Trevin Rard650.521.8450
ir@pacificbiosciences.com
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