Genomic Vision Presents the Initial Results of the Pilot Study Undertaken with Quest Diagnostics in Spinal Muscular Atrophy (...
October 20 2016 - 2:00AM
Business Wire
Molecular combing allows a more accurate
mapping of the SMN locus in the African-American population than
genetic sequencing
Regulatory News:
Genomic Vision (Paris:GV) (FR0011799907 – GV), DNA
molecular combing specialist that develops tests for the
diagnostics market and tools for the life sciences research market,
today announces that it has presented, at the Annual Meeting of the
American Society of Human Genetics (ASHG 2016, October 18 - 22,
2016, Vancouver, Canada), the initial results of the pilot study
undertaken with Quest Diagnostics that aims to identify a biomarker
to improve genetic counseling for Spinal Muscular Atrophy (SMA) in
the African-American population.
SMA is a hereditary genetic disease caused by a defect of the
SMN1 gene in both of the patients’ copies of chromosome 5. 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. The
frequency of healthy carriers of this disease in the general
population is 1/40 to 1/60. The high incidence of this disease, and
its severity, are the reasons why there is a strong demand for
genetic counseling.
Due to the particularly complex genomic organization of the SMN
locus, around 8% of individuals globally and 30% of healthy
carriers in the African-American population cannot be detected
efficiently using traditional molecular biology techniques.
Detecting these healthy carriers is therefore crucial to improving
genetic counseling among this population.
The poster presented during the annual meeting (entitled
Molecular Combing reveals structural variations in the Spinal
Muscular Atrophy locus in African-American population, session:
Molecular and Cytogenetic Diagnostics) concerned the accurate
mapping of the SMN locus in the African-American population using
molecular combing technology.
Anne Jacquet, Director of Biomedical Research at Genomic
Vision, comments: “The SMN locus is a very complex region that
no technology has yet been able to accurately characterize. The
initial results obtained with molecular combing using a specific
Genomic Morse Code for the studied SMN region has revealed a more
complex and variable genomic organization than that described in
human genome sequencing databases. We have notably identified, at
various points along the SMN locus, variable numbers of copies of
the gene within a same individual and from one individual to
another. This more accurate mapping of the SMN locus should provide
us with crucial information for developing our screening test for
healthy carriers, notably for the African-American population
within which 30% of healthy carriers are currently not efficiently
detected that is thus a real problem for providing families with
genetic counseling.”
ABOUT GENOMIC VISION
Founded in 2004, Genomic Vision is a DNA molecular combing
specialist that develops tests for the diagnostics market and tools
for the life sciences research market. Using its innovative
technology that allows the direct visualization of individual DNA
molecules, Genomic Vision detects quantitative and qualitative
variations in the genome that are at the origin of numerous serious
pathologies. The Company is developing a solid portfolio of tests
that initially target breast and colon cancers. Since 2013, the
Company has marketed the CombHelix FSHD test for identifying
facioscapulohumeral dystrophy (FSHD), a myopathy that is difficult
to detect. It is marketed in the United States through a strategic
alliance with Quest Diagnostics, the American leader in diagnostic
laboratory tests, and in France directly by the Company. Genomic
Vision has been listed on Compartment C of Euronext Paris since
April 2014.
ABOUT MOLECULAR COMBING
DNA molecular combing technology significantly improves the
structural and functional analysis of DNA molecules. Utilizing this
technology DNA fibers are stretched over glass slides, as if
"combed," and are uniformly aligned over the entire surface. It is
then possible to identify genetic anomalies by locating specific
genes or sequences in the patient's genome using genetic markers, a
technique developed by Genomic Vision and patented under the name
Genomic Morse Code. This exploration of the entire genome at high
resolution via a simple analysis enables the direct visualization
of genetic anomalies that are undetectable by other technologies.
For further information, please visit www.genomicvision.com
Member of CAC® Mid & Small, CAC® All-Tradable
and EnterNext© PEA-PME 150 indexes
View source
version on businesswire.com: http://www.businesswire.com/news/home/20161019006563/en/
Genomic VisionAaron Bensimon, Tel.: +33 1 49 08 07
50Co-founder, Chairman &
CEOinvestisseurs@genomicvision.comorKalimaRelations
PresseEstelle Reine-AdélaïdeFlorence CalbaTel.: +33 6 17 72 74 73 /
+33 1 44 90 82 54era@kalima-rp.frorNewCapInvestor Relations
/ Strategic CommunicationsDušan Orešanský / Emmanuel Huynh, Tel.:
+33 1 44 71 94 92gv@newcap.euorLHAU.S. Investor
RelationsAnne Marie Fields, 212-838-3777afields@lhai.com
Goldfield (AMEX:GV)
Historical Stock Chart
From Aug 2024 to Sep 2024
Goldfield (AMEX:GV)
Historical Stock Chart
From Sep 2023 to Sep 2024