Children’s Mercy Kansas City, one of the nation’s top pediatric
medical systems, and Pacific Biosciences of California, Inc.
(Nasdaq:PACB), a leading provider of high-quality sequencing of
genomes, transcriptomes and epigenomes, today announced a
collaboration designed to further understand the most challenging
pediatric diseases. The organizations will team up to sequence a
statistically significant cohort of rare disease cases for which
previous whole-genome and whole-exome sequencing studies yielded no
answers.
“Children’s Mercy leads with a vision that excellence in
pediatric translational research will lead to improved care for
sick children,” said Tomi Pastinen, MD, PhD, director of the Center
for Pediatric Genomic Medicine at Children’s Mercy. “We are
delighted to be collaborating with the innovative scientists at
PacBio as we bring their long-read sequencing data to bear on some
of our most difficult cases of rare pediatric disease to give
patients and families the answers they deserve.”
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
short-read sequencing typically lead 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 new study is designed to evaluate the rate at which
HiFi sequencing identifies overlooked causal variation.
The Children’s Mercy Research Institute at Children’s Mercy has
launched Genomic Answers for Kids (GA4K), a first-of-its-kind
clinical data repository to facilitate the search for answers and
novel treatments for pediatric genetic conditions. The goal is to
collect genomic data and health information for 30,000 children and
their families over the next seven years, ultimately creating a
database of nearly 100,000 genomes. Children’s Mercy has recently
invested in Sequel II Systems to incorporate HiFi sequencing into
this effort. As part of the new collaboration, scientists will
evaluate the ability of HiFi data to reproduce all variants
previously detected by short-read methods and to identify novel
variants that could explain disease phenotypes.
Children’s Mercy and PacBio will be working with the Microsoft
Genomics team to build Microsoft Azure cloud-based analysis
solutions and a data repository for this unique data set.
“The diagnosis journey for a child with a rare disease and their
families can be long and often inconclusive. We believe the
advancement of precision medicine with specialized technologies
will be key to gaining a better understanding and early diagnosis
of these debilitating and deadly diseases,” said Gregory Moore, MD,
PhD, corporate vice president, Microsoft Health. “We are pleased to
be working with the Children’s Mercy and PacBio teams to bring the
power of our trusted cloud and AI technologies to have a
transformative impact on the lives of these children.”
Christian Henry, Chief Executive Officer of Pacific Biosciences,
commented: “PacBio is proud to partner with Children's Mercy to
develop advanced genome sequencing and analysis methods for
children with rare diseases — with the ultimate goal of improving
diagnostic yields. Our HiFi sequencing technology is unique in its
ability to provide genetic insights for phenotypes of interest,
previously undetectable by short-read sequencing methods. We look
forward to making a meaningful impact by increasing solve rates
through this important partnership.”
More information about how Children’s Mercy scientists are using
HiFi sequencing will be presented in PacBio’s ancillary workshop
Monday, October 26, from 1:00 pm - 2:00 pm ET during the American
Society of Human Genetics (ASHG) Annual Meeting. Emily Farrow, PhD,
CGC, Director of Laboratory Operations at the Genomic Medicine
Center at Children’s Mercy, will give a talk entitled “Applications
of Third Generation Sequencing in Unsolved Disease.” Free virtual
event registration is available here.
About Children’s Mercy Kansas CityFounded in
1897, Children’s Mercy is one of the nation’s top pediatric medical
centers. With not-for-profit hospitals in Missouri and Kansas, and
numerous specialty clinics in both states, Children’s Mercy
provides the highest level of care for children from birth through
the age of 21. U.S. News & World Report has repeatedly ranked
Children’s Mercy as one of “America's Best Children's Hospitals.”
For the fourth time in a row, Children’s Mercy has achieved Magnet
nursing designation, awarded to only about eight percent of all
hospitals nationally, for excellence in quality care. Its faculty
of more than 800 pediatric subspecialists and researchers across
more than 40 subspecialties are actively involved in clinical care,
pediatric research, and educating the next generation of pediatric
subspecialists. Thanks to generous philanthropic and volunteer
support, Children’s Mercy provides medical care to every child who
passes through its doors, regardless of a family’s ability to pay.
For more information about Children’s Mercy and its research, visit
childrensmercy.org. For breaking news and videos, follow us on
Twitter, YouTube and Facebook.
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.
PacBio products are provided for Research Use
Only. Not for use in diagnostic procedures.
Forward-Looking Statements All statements in
this press release that are not historical are forward-looking
statements, including, among other things, statements relating to
market leadership, uses, accuracy, presentations regarding, quality
or performance of, or benefits of using, our products or
technologies, including SMRT technology, the suitability or utility
of our methods, products or technologies for particular
applications or projects, the expected benefits and expected
achievement of the goals of the research collaboration with
Children’s Mercy and Microsoft, the ability of the Company to be
successful in reaching its technological and commercial potential,
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.
Contacts
For Children’s Mercy Kansas CityMarlene Bentley
816.302-0363mjbentley@cmh.edu
For PacBioMedia: Colin Sanford 203.918.4347
colin@bioscribe.com
Investors: Trevin Rard 650.521.8450
ir@pacificbiosciences.com
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