Pacific Biosciences and Rady Children’s Institute for Genomic Medicine Announce its First Research Collaboration for Whole...
June 23 2021 - 4:05PM
Pacific Biosciences of California, Inc. (Nasdaq: PACB)(“Pacific
Biosciences” or “PacBio”), a leading provider of high-quality,
long-read sequencing platforms, and Rady Children’s Institute for
Genomic Medicine (RCIGM), a mission-driven, non-profit seeking to
save lives and improve outcomes for patients, clinicians and
families, shared today that they are collaborating on a study which
aims to identify potential disease-causing genetic variants and
increase the solve rates of rare diseases.
The study is focused on long-read whole genome sequencing of
rare disease cases for which previous short-read whole genome and
exome sequencing yielded no answers. The study, which is currently
underway, was able to detect variants that were not identified by
short-read sequencing (SRS); of these, an average of 37 were
missense mutations in known disease genes.
“PacBio HiFi sequencing can identify numerous variants, both
small and structural that are not readily detectable by SRS,” said
Matthew Bainbridge, Principal Investigator, and Associate Director
of Clinical Genomics at RCIGM. “We sequenced this cohort of
patients to 10-30X depth of coverage using Pacific Biosciences HiFi
long-read technology to assess whether there was an increase in the
identification of these variants. We are very pleased by the
preliminary results delivered in this collaboration with the team
at PacBio.”
It is estimated that as many as 25 million Americans —
approximately 1 in 13 people — are affected by a rare, and often
undiagnosed condition. In rare disease studies, conventional
techniques for whole-genome and whole-exome analysis based on SRS
typically led to identification of a causal variant in less than
50% of cases. Utilizing PacBio’s Single Molecule, Real-Time (SMRT®)
Sequencing technology to generate highly accurate long-reads,
known as HiFi reads, clinical researchers have
demonstrated that they can detect disease-causing structural and
small variants missed by short-read sequencing platforms. This
study is designed to evaluate the rate at which HiFi sequencing
identifies overlooked causal variation.
“It is an honor to collaborate with the innovative pediatric
translational researchers at RCIGM to bring HiFi Sequencing data to
bear on some of their most difficult cases of rare pediatric
disease, and hopefully give individuals and families answers
regarding potential underlying genetic variants, which may
ultimately provide healthcare providers with insights to end their
diagnostic odysseys,” said Christian Henry, CEO and President at
PacBio.
“We’ve been aware that there’s a subset of seriously ill babies
and children who don’t receive a diagnosis with current sequencing
methods, but based on their symptoms, we’re fairly certain that
they have an underpinning genetic disease,” said Stephen Kingsmore,
MD, DSc, President and CEO of Rady’s Children’s Institute for
Genomic Medicine. “With this new technology, we are excited to see
how many more of these children and families will receive
additional insight regarding the identification of potential
disease-causing genetic variants.”
About Pacific BiosciencesPacific Biosciences of
California, Inc. (NASDAQ: PACB) is empowering life scientists with
highly accurate long-read sequencing. The company’s innovative
instruments are based on Single Molecule, Real-Time (SMRT®)
Sequencing technology, which delivers a comprehensive view of
genomes, transcriptomes, and epigenomes, enabling access to the
full spectrum of genetic variation in any organism. Cited in
thousands of peer-reviewed publications, PacBio® sequencing systems
are in use by scientists around the world to drive discovery in
human biomedical research, plant and animal sciences, and
microbiology. For more information, please
visit www.pacb.com and follow @PacBio.
About Rady Children’s Institute for Genomic
MedicineWe are transforming pediatric critical care by
advancing disease-specific healthcare for infants and children with
rare disease. Discoveries at the Institute are enabling rapid
diagnosis and targeted treatment of critically ill newborns and
pediatric patients at Rady Children’s Hospital-San Diego and a
growing network of more than 60 children’s hospitals nationwide.
The vision is to expand delivery of this life-changing technology
to enable the practice of Rapid Precision Medicine™ at children’s
hospitals across the nation and the world. RCIGM is a non-profit,
research institute of Rady Children’s Hospital and Health Center.
Learn more at www.RadyGenomics.org. Follow us on Twitter and
LinkedIn.
PacBio products are provided for Research Use
Only. Not for use in diagnostic procedures.
Forward-Looking Statements This press release
may contain “forward-looking statements” within the meaning of
Section 21E of the Securities Exchange Act of 1934, as amended, and
the U.S. Private Securities Litigation Reform Act of 1995,
including statements relating to the collaboration between PacBio
and RCIGM, potential use of SMRT sequencing technology to identify,
and increase the rate of identification of, potential
disease-causing genetic variants in rare disease, the potential of
HiFi data, the applications, insights, and attributes of SMRT
sequencing technology, and the benefits of PacBio sequencing.
Readers are cautioned not to place undue reliance on these
forward-looking statements and any such forward-looking statements
are qualified in their entirety by reference to the following
cautionary statements. All forward-looking statements speak only as
of the date of this press release and are based on current
expectations and involve a number of assumptions, risks and
uncertainties that could cause the actual results to differ
materially from such forward-looking statements. Readers are
strongly encouraged to read the full cautionary statements
contained in the Company’s filings with the Securities and Exchange
Commission, including the risks set forth in the company’s Forms
8-K, 10-K, and 10-Q. The Company disclaims any obligation to update
or revise any forward-looking statements.
Contacts
Investors:Todd Friedman+1 (650)
521-8450ir@pacificbiosciences.com
Media:Jen Carroll+1 (858)
449-8082pr@pacificbiosciences.com
Grace Sevilla+1 858-966-1710 (o); +1 619-855-5135 cell
(c)gsevilla@rchsd.org
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