Genomic Vision Extends Its Collaboration with Quest Diagnostics in Spinal Muscular Atrophy (SMA)
March 14 2018 - 2:30AM
Business Wire
- SMA is the leading genetic cause of
death in infants and carrier rate is 1 in 50.
- Following the promising initial results
obtained in 2017, both companies agree to accelerate program to
research and potentially develop a clinical SMA combing carrier
screening service.
- If successfully, Genomic Vision will
receive royalties for any test service independently developed by
Quest as a result of the research.
Regulatory News:
Genomic Vision (Paris:GV) (FR0011799907 – GV), a company
specialized in the development of diagnostic tests for the early
detection of cancers and hereditary diseases, and applications for
life sciences research, today announced that it has extended its
collaboration and commercialization agreement with Quest
Diagnostics, the world’s leading provider of diagnostic information
services, for the development of new biomarkers to improve the
genetic detection of Spinal Muscular Atrophy (SMA).
Genomic Vision and Quest Diagnostics have agreed to accelerate
the pace of their collaboration to identify new biomarkers with the
possibility of detecting SMA “2+0” carrier status. Identification
of this rare form of mutation would lead to greater sensitivity in
SMA screening. The extended agreement follows a presentation at the
American Society of Human Genetics (ASHG) in 2016 that showed the
relevance of molecular combing for the structural analysis of SMA’s
complex genomic region. Quest would independently develop, validate
and offer any new lab test based in this research.
Stephane Altaba, Executive VP Corporate Development of
Genomic Vision declared: “We are very proud of the results
already obtained in the characterization of the SMA genomic region.
This reinforced partnership aiming to enhance SMA testing could
result in improved services to help patients and doctors identify
SMA status. If an improved test is launched, Genomic Vision will
receive royalties from its total sales.”
Dr. Jay Wohlgemuth, Senior VP, CMO of Quest Diagnostics
added: “DNA combing can enable detection of clinically relevant
genomic changes which not all current technologies can observe. We
look forward to exploring the potential for new biomarker discovery
and test services using the innovative DNA combing technique to
advance SMA screening for couples and their children.”
SMA is a genetic condition that results in progressive muscle
weakness and paralysis due to loss of motor neuron in the spinal
cord. The disease is often fatal during childhood and is caused by
a defect of the SMN1 gene in both of the patients’ copies of
chromosome 5. The incidence of SMA in the general population is
1/6000-1/10.000 births.
The disease is transmitted in an autosomal recessive manner
which means that the healthy parents of an affected child carry the
SMN1 gene defect, although they are completely asymptomatic.
Carriers with 2 SMN1 gene copies on 1 chromosome and none on the
other (“2+0”) cannot be distinguished from a normal non-carrier,
and therefore the test result may not reliably identify carrier
status. Initial research suggests this pattern may be detected by
molecular combing, technique pioneered by Genomic Vision.
Because of a highly complex genomic organization of the SMN
locus, undetectable by current diagnostic techniques (multiplex
ligation-dependent probe amplification, quantitative PCR, and DNA
sequencing)., the screening test of couples at risk for conceiving
a child with SMA may produce false-negative results. In addition,
30% of healthy carriers in the African-American population in the
US cannot be detected using traditional molecular biology
techniques.
In early 2017, the American College of Gynaecology (ACOG)
changed its screening guidelines to recommend that physician offer
SMA screening tests for all women who are -or are considering
becoming- pregnant. If a woman is found to be a carrier, her
reproductive partner should be offered screening.
ABOUT GENOMIC VISION
GENOMIC VISION is a company specialized in the development of
diagnostic solutions for the early detection of cancers and serious
genetic diseases and tools for life sciences research. Through the
DNA Molecular Combing, a strong proprietary technology allowing to
identify genetic abnormalities, GENOMIC VISION stimulates the
R&D productivity of the pharmaceutical companies, the leaders
of the diagnostic industry and the research labs.
The Company develops a robust portfolio of diagnostic tests
(breast, ovarian and colorectal cancers, myopathies) and analysis
tools (DNA replication, biomarkers discovery, gene editing quality
control). Based near Paris, in Bagneux, the Company has
approximately 50 employees. GENOMIC VISION is a public listed
company listed in compartment C of Euronext’s regulated market in
Paris (Euronext: GV - ISIN: FR0011799907). For further information,
please visit www.genomicvision.com
Member of CAC® Mid & Small and CAC®
All-Tradable indexes
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forward-looking statements concerning Genomic Vision and its
business.
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Genomic Vision considers to be reasonable. However, there can be no
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which statements are subject to numerous risks, including the risks
set forth in the “Risk Factors” section of the reference document
dated March 28, 2017, available on the web site of Genomic Vision
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Genomic VisionAaron BensimonCo-founder, Chairman &
CEOTel.: +33 1 49 08 07
50investisseurs@genomicvision.comorUlysse
CommunicationPress RelationsBruno ArabianTel.: +33 1 42
68 29 70barabian@ulysse-communication.comorNewCapInvestor
RelationsDušan Orešanský / Emmanuel HuynhTel.: +33 1 44 71 94
92gv@newcap.eu
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