Consortium Selects Leading Genomics Companies to Support
Pediatric Mendelian Genomics Research Center Program
ALISO
VIEJO, Calif. and MENLO PARK,
Calif., May 15, 2024 /PRNewswire/ --Ambry
Genetics, a prominent leader in clinical genomic testing and a
subsidiary of REALM IDx, Inc., along with PacBio (NASDAQ: PACB), a
leading developer of high-quality, highly accurate sequencing
solutions, today announced their companies' selection by the
University of California, Irvine (UCI)
and the GREGoR Consortium (Genomics Research to Elucidate the
Genetics of Rare diseases) to support the Pediatric Mendelian
Genomics Research Center (MGRC) program to better understand the
underlying biology of rare diseases.
The GREGoR Consortium is a National Institutes of Health-funded
collaborative effort which aims to transform the landscape of
Mendelian disease research by identifying the underlying genetic
cause of rare disease in samples from individuals for whom prior
genomic analysis did not yield answers. This ambitious research,
among the largest programs of its kind, will use long-read
sequencing technology to sequence and analyze up to 7,000 human
whole genomes over three years, with a focus on developing new
insights into rare disease etiology.
"There remain a multitude of rare diseases that are
difficult to diagnose, and for which effective treatments remain
elusive," said Eric Vilain M.D.,
Ph.D., director of the Institute for Clinical and Translational
Science and the associate vice chancellor for Clinical and
Translational Science at UCI. "Our research endeavors aim to shed
light on these complexities, revealing insights that legacy
technologies struggle to uncover. Collaborating with our partners
at Ambry Genetics and PacBio, we are poised to enhance our
comprehension of rare diseases and in the future revolutionize
diagnostic capabilities. This collaborative effort is designed to
offer hope not only to families in our study, but to all families
looking to unlock answers for children facing rare diseases."
This pioneering initiative unites leading genomics researchers
who will work collaboratively to incorporate innovative methods for
understanding the biology of rare disease including phenotyping,
variant identification, and functional analysis of both coding and
non-coding sequence alterations. By using highly accurate 5-base,
long-read sequencing technology, the researchers hope to discover
new rare variants and to understand the role of epigenomics on
disease manifestation. By building new analysis pipelines for these
genomic and epigenomic data, the researchers hope to discover new
Mendelian gene variations and to better categorize previously
identified variants of unknown significance.
"Over the past few years, we've collaborated with leading
genomics researchers around the world to advance the scientific
community's understanding of the genomic basis of rare disease,"
said Christian Henry, President and
Chief Executive Officer of PacBio. "This project with the GREGoR
team represents a significant step forward for us. We hope that by
partnering with scientists at U.C. Irvine and geneticists from Ambry Genetics, we
will not only be able to help families better understand the
underlying causes of rare disease, but also to identify new
analysis pipelines that can speed this process for other labs."
"Through this collaboration, we will continue to advance the
scientific community's understanding of rare disease and to support
both patients enrolled in this study and others whose exomes were
sequenced previously through our Patient for Life program," said
Tom Schoenherr, CEO of Ambry
Genetics. "This collaboration is an example of our steadfast
commitment to excellence in genomics and relentless pursuit of
innovation, which has been a driving force behind our work since we
launched our first clinical offering for rare disease diagnosis
more than 20 years ago."
For more information, visit the GREGoR Consortium.
About Ambry Genetics®
Ambry Genetics, a
subsidiary of REALM IDx, Inc., translates scientific research into
clinically actionable test results based upon a deep understanding
of the human genome and the biology behind genetic disease. It is a
leader in genetic testing that aims to improve health by
understanding the relationship between genetics and disease. Its
unparalleled track record of discoveries over 20 years, and growing
database that continues to expand in collaboration with academic,
corporate, and pharmaceutical partners, means Ambry Genetics is
first to market with innovative products and comprehensive analysis
that enable clinicians to confidently inform patient health
decisions.
About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company
that designs, develops and manufactures advanced sequencing
solutions to help scientists and clinical researchers resolve
genetically complex problems. Our products and technologies stem
from two highly differentiated core technologies focused on
accuracy, quality and completeness which include our HiFi long-read
sequencing and our SBB® short-read sequencing technologies. Our
products address solutions across a broad set of research
applications including human germline sequencing, plant and animal
sciences, infectious disease and microbiology, oncology, and other
emerging applications. 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
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. All
statements other than statements of historical fact are
forward-looking statements, including statements relating to the
uses, coverage, advantages, quality or performance of, or benefits
or expected benefits of using, PacBio products or technologies;
anticipated number of whole human genomes to be sequenced in the
collaboration and related discoveries in rare disease research; and
other future events. You should not place undue reliance on
forward-looking statements because they are subject to assumptions,
risks, and uncertainties and could cause actual outcomes and
results to differ materially from currently anticipated results,
including, challenges inherent in sequencing a large number of
whole human genomes, and the difficulty of generating discoveries
across various areas of research; unanticipated increases in costs
or expenses; interruptions or delays in the supply of components or
materials for, or manufacturing of, PacBio products and products
under development; potential product performance and quality
issues; third-party claims alleging infringement of patents and
proprietary rights or seeking to invalidate PacBio's patents or
proprietary rights; and other risks associated with international
operations. Additional factors that could materially affect actual
results can be found in PacBio's most recent filings with the
Securities and Exchange Commission, including PacBio's most recent
reports on Forms 8-K, 10-K, and 10-Q, and include those listed
under the caption "Risk Factors." These forward-looking statements
are based on current expectations and speak only as of the date
hereof; except as required by law, PacBio disclaims any obligation
to revise or update these forward-looking statements to reflect
events or circumstances in the future, even if new information
becomes available.
Contacts
For Ambry Genetics:
Gwen Gordon
Gwen@gwengordonpr.com
For PacBio:
Investors:
Todd Friedman
ir@pacificbiosciences.com
Media:
pr@pacificbiosciences.com
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SOURCE Pacific Biosciences of California, Inc.