– Researchers will now be able to access rich
clinical data on patients with rare neurological disease
–
SAN
FRANCISCO, Sept. 12, 2022 /PRNewswire/
-- Invitae (NYSE: NVTA), a leading medical genetics company,
today announced a collaboration with Simons Searchlight, an
international research program with a goal of accelerating research
and improving lives for people with rare genetic neurodevelopmental
disorders. This partnership will connect two sets of data – the
longitudinal clinical data extracted from medical records through
Invitae's Ciitizen, a patient-consented, digital natural history
data platform and patient reported outcomes and biospecimens
collected by Simons Searchlight. The partnership breaks down data
silos and provides a rich and deep dataset that will help
accelerate research for rare neurodevelopmental diseases.
"We are excited about this collaboration that will allow
researchers to get deep, rich longitudinal data on rare disease
patients," said Farid Vij, president
and general manager of data for Invitae. "This is intended to help
improve treatment, with a goal of ultimately finding a cure for
these rare diseases."
Rare disease patients and caregivers are often asked to
participate in many different stand- alone studies to help advance
research. Through the combined clinical and patient-reported data
in these two datasets, researchers get a deeper understanding of
the etiology and progression of disease, sparing additional time,
effort and data collection from the patient.
"Joining forces with Invitae is incredibly powerful for patients
with rare diseases," said Jennifer
Tjernagel, M.S., senior project manager at Simons
Searchlight, Simons Foundation. "Our partnership and the resulting
datasets will help improve understanding, diagnosis and treatment
of neurodevelopmental disorders, such as STXBP1, SYNGAP1 and
others. Having the support of Invitae's Ciitizen platform will help
pair patient-reported data with clinical information for in depth
data analysis."
Charlene Son Rigby, president and
co-founder of STXBP1 Foundation shared, "We are thrilled to
partner with Invitae and Simons Searchlight on this initiative. We
believe in the power of data and how important sharing that data
can be in the journey to finding a cure for STXBP1 Disorder. Having
this kind of collaboration in our toolkit is opening up an entirely
new approach for our foundation and our patient community. The
combination of Invitae's existing clinical data which will be
transitioned into a readily usable format, and Simons' deep
information from patients and caregivers, will provide doctors and
scientists with an innovative way to accelerate understanding of
natural history, while allowing patients and their loved ones to
focus on what's most important - their health."
Mike Graglia, Managing Director
and Co-Founder of the SynGAP Research Fund stated, "Invitae's
Ciitizen is a powerful digital natural history study data platform
in the rare disease space. The technology, execution and clinical
expertise behind it are exceptional. Simons Searchlight is the
most established clinician-led registry in autism and related
disorders. The accomplishment of connecting these two platforms is
a testament to their collective focus on helping patients. Every
single patient who has access to Invitae's Ciitizen platform and
Searchlight should consent to join their profiles now."
This agreement expands upon a partnership that was originally
launched as a pilot for STXBP1 patients and the STXBP1
Foundation. The relationship allowed consenting patients to link
their de-identified Invitae Ciitizen data with the Simons
Searchlight database to accelerate understanding of patients with
STXBP1 disorder. By expanding focus to additional rare neurological
disorders, such as SYNGAP1, SCN2A, SLC6A1 and more, researchers are
one step closer to finding the needle in the haystack for patients
with these conditions. To learn more about Invitae's Ciitizen data
platform and request access to the consented dataset for research,
email partners@invitae.com.
About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical 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 Simons Searchlight
Simons Searchlight collects medical, developmental, and
behavioral data on people living with rare developmental disorders.
Participants and their families share this valuable information and
experiences so that scientists around the world may increase
understanding of these medical conditions and ultimately improve
lives. For more information, visit simonssearchlight.org
Safe Harbor Statement
This press release contains forward-looking statements within
the meaning of the Private Securities Litigation Reform Act of
1995, including statements relating to the availability, features
and potential impact of the company's products; the company's
belief that it is the first and only laboratory to offer this
comprehensive suite of tests for neurodevelopmental disorders in an
easily accessible format; the company's belief that its NDD package
is affordable and fast; and the company's belief that its NDD
package will inform care decisions and treatment plans for
patients. Forward-looking statements are subject to risks and
uncertainties that could cause actual results to differ materially,
and reported results should not be considered as an indication of
future performance. These risks and uncertainties include, but are
not limited to: the company's history of losses; the company's
ability to compete; the company's failure to manage growth
effectively; the company's need to scale its infrastructure in
advance of demand for its tests and to increase demand for its
tests; the company's ability to use rapidly changing genetic data
to interpret test results accurately and consistently; security
breaches, loss of data and other disruptions; laws and regulations
applicable to the company's business; and the other risks set forth
in the company's filings with the Securities and Exchange
Commission, including the risks set forth in the company's Annual
Report on Form 10-K for the year ended December 31, 2021. These forward-looking
statements speak only as of the date hereof, and Invitae
Corporation disclaims any obligation to update these
forward-looking statements.
Contact: Renee Kelley
pr@invitae.com
(628) 213-3283
View original content to download
multimedia:https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html
SOURCE Invitae Corporation