HudsonAlpha Using PacBio Sequencing for Childhood Developmental Disabilities Research
April 11 2018 - 7:30AM
Pacific Biosciences of California, Inc. (Nasdaq:PACB), the leader
in long-read, high-resolution sequencing, today announced that the
HudsonAlpha Institute for Biotechnology is using the organization’s
newest Sequel® Sequencing System to support the goal of
dramatically increasing the diagnostic success rate in challenging
pediatric clinical cases.
Led by faculty investigator Greg Cooper, Ph.D., the
institution’s NIH-funded Clinical Sequencing Exploratory Research
(CSER) project is applying whole genome sequencing to better
understand the genetic basis of intellectual and developmental
disabilities in children and provide diagnostic information to
affected families. More than 500 children and their parents have
been enrolled in the study.
The group’s efforts to diagnose these children using short-read
sequencing technology have achieved a success rate of about 30
percent, but it is widely known that these platforms are unable to
detect certain types of genetic variation that contribute to
disease. Structural variants such as repeat expansions and copy
number variations are larger and more complex than short-read
sequencers can typically resolve, and likely underlie some of the
cases that have gone undiagnosed. Diseases already known to be
caused by these larger structural variants include ALS, autism,
Fragile X syndrome, and Huntington’s disease, among others.
HudsonAlpha is now applying PacBio® long-read sequencing technology
for whole genome sequencing of affected children along with their
parents. This approach could produce answers for many cases that
have proven intractable with other technologies.
“By applying whole genome PacBio Sequencing in this study we
hope to more sensitively identify all sizes of genetic variants,
thereby increasing our solve rate for previously undiagnosed
children,” said Dr. Cooper. “In many cases, an accurate clinical
diagnosis can improve our ability to manage the child’s
condition. We also anticipate that we will make novel discoveries
through this work that may benefit many families beyond those
directly tested here.”
Scientists at HudsonAlpha have been using PacBio Single
Molecule, Real-Time (SMRT®) Sequencing technology in their
agricultural biology work. Based on success applying long-read SMRT
Sequencing to challenging plant genomes, the organization has added
a second Sequel System for clinical research use in addition to its
existing PacBio instrumentation used for AgBio research -- a Sequel
System as well as a PacBio RS II System.
“PacBio Sequencing has made it possible for us to generate
high-quality reference genomes for most plants, and we now want to
apply the benefits of this technology in the human disease space,”
said Jeremy Schmutz, another HudsonAlpha faculty investigator.
“With further scale increases and cost decreases in the
future, true individual de novo genome sequencing may become
the tool of choice for addressing difficult medical
cases.”
Kevin Corcoran, Senior Vice President for Market Development at
Pacific Biosciences commented: “We believe projects like
HudsonAlpha’s CSER program to help solve undiagnosed genetic
disease in children are among the most important and rewarding uses
for our technology. We are delighted to see that one of our most
successful customers working in the plant sciences has decided to
apply our long-read technology to their research in patient
populations. We look forward to seeing how PacBio sequencing can
both improve their clinical sequencing success rate as well as
support new discoveries.”
A number of other studies have been announced in the past year
that are using, or plan to use, highly accurate PacBio whole-genome
sequencing to with a goal of increasing the solve rate for genetic
disease. These include Stanford University School of Medicine; the
European Solve-RD Consortium, which is performing a 500-individual
rare disease study; and Novogene, which has announced plans to
sequence 1,000 Chinese genomes.
About Pacific BiosciencesPacific 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.
About HudsonAlphaHudsonAlpha Institute for
Biotechnology is a nonprofit institute dedicated to developing and
applying scientific advances to health, agriculture, learning, and
commercialization. Opened in 2008, HudsonAlpha's vision is to
leverage the synergy between discovery, education, medicine, and
economic development in genomic sciences to improve the human
condition around the globe. The HudsonAlpha biotechnology campus
consists of 152 acres nestled within Cummings Research Park, the
nation’s second largest research park. The state-of-the-art
facilities co-locate nonprofit scientific researchers with
entrepreneurs and educators. HudsonAlpha has become a national and
international leader in genetics and genomics research and biotech
education and includes more than 30 diverse biotech companies on
campus. To learn more about HudsonAlpha, visit hudsonalpha.org.
Forward-Looking StatementsAll statements in
this press release that are not historical are forward-looking
statements, including, among other things, statements relating to
future availability, uses, accuracy, quality or performance of, or
benefits of using, products or technologies, the suitability or
utility of products or technologies for particular applications,
studies or projects, including the CSER project at HudsonAlpha, 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
Litchfield415.793.6468nicole@bioscribe.com
Investors:Trevin Rard650.521.8450ir@pacificbiosciences.com
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