Invitae and Pacific Biosciences Collaborate to Develop Whole Genome Sequencing-Based Assays for Pediatric Epilepsy Diagnosti...
October 22 2020 - 8:00AM
Invitae Corporation (NYSE: NVTA), a leading genetics company, and
Pacific Biosciences of California, Inc. (Nasdaq:PACB), a leading
provider of high-quality sequencing of genomes, transcriptomes and
epigenomes, today announced a research collaboration focused on the
investigation of clinically relevant molecular targets for use in
the development of advanced diagnostic testing for epilepsy. To
support this collaboration, Invitae is expanding their PacBio
sequencing capacity to meet the growing demand for clinical
applications dependent on highly accurate genomic information.
More than half of epilepsies can be traced to a genetic cause.
When a child presents with seizures, genetic testing can help
identify more than 100 underlying, often rare conditions. Early
genetic testing may be the most cost-effective, direct, and
accurate diagnostic tool for children, shortening lengthy
diagnostic odysseys. Delays in diagnosis can be devastating for
children, as some genetic epilepsies are neurodegenerative and
early symptoms may be subtle and easy to misdiagnose. Invitae’s
Behind the Seizure® program is a prominent collaborative program
that was developed to provide faster diagnosis for young children
with epilepsy in many regions around the world.
“It is estimated that nearly 50 million people are living with
diagnosed epilepsy worldwide, but the underlying cause remains
unknown for approximately half of these individuals,” said Robert
L. Nussbaum, MD, Chief Medical Officer at Invitae. “Identifying the
many underlying genetic causes of epilepsy is becoming increasingly
critical to overall clinical management and prognosis. Through this
research collaboration with PacBio, Invitae aims to develop
innovative methods that will provide more accurate answers to
individuals living with epilepsy and their healthcare
providers.”
The first phase of the research collaboration between Invitae
and PacBio is focused on a whole genome sequencing study of a large
pediatric epilepsy patient cohort, derived from the Behind the
Seizure® program. Sequencing will be performed using PacBio’s
highly accurate, long-read SMRT® Sequencing technology, known as
HiFi sequencing, to generate comprehensive variant profiles used to
investigate the genetic etiology of epilepsy. This research is
intended to accelerate Invitae’s development of assays to help
patients that have been unable to get a diagnosis with conventional
short-read sequencing technologies and facilitate improved
treatment options based on specific genetic targets.
"We are honored to partner with Invitae, a recognized leader in
genetics, to co-develop methods that have the potential to support
earlier genetic testing and intervention to aid treatment selection
for millions of people living with epilepsy worldwide,” said
Christian Henry, Chief Executive Officer of PacBio. “Working with
leading organizations such as Invitae is an important part of our
strategy to accelerate the use of our highly accurate long-read
sequencing platform in large-scale whole genome sequencing
initiatives.”
About Behind the
Seizure®Behind the Seizure is an
innovative, cross-company collaboration designed to increase access
to genetic testing for children who experience unprovoked seizures
in childhood in the United States and Canada. More than half of
epilepsies have some genetic basis, and are often associated with
rare, neurodegenerative conditions with non-specific symptoms.
Early genetic testing may be the most direct, cost-effective, and
accurate diagnostic tool. Participants in the Behind the Seizure
program are diagnosed one to two years sooner than reported
averages. The program was established by BioMarin and Invitae and
now includes: Biogen, Encoded Therapeutics, Neurocrine Biosciences,
Neurogene Inc., Praxis Precision Medicines, PTC Therapeutics, Stoke
Therapeutics, Taysha Gene Therapies, and Xenon Pharmaceuticals. To
learn more about the Behind the Seizure program please visit
https://www.invitae.com/en/behindtheseizure/.
About InvitaeInvitae
Corporation (NYSE: NVTA) is a leading genetics company whose
mission is to bring comprehensive genetic information into
mainstream medicine to improve healthcare for billions of people.
Invitae's goal is to aggregate the world's genetic tests into a
single service with higher quality, faster turnaround time, and
lower prices. For more information, visit the company's website at
invitae.com.
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 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, 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 Invitae, 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 InvitaeLaura D'Angelo 628.213.3283pr@invitae.comFor
PacBioMedia: Colin Sanford 203.918.4347colin@bioscribe.com
Investors: Trevin Rard 650.521.8450ir@pacificbiosciences.com
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