Genomic Vision Technology Used to Genetically Characterise Patients Affected by Familial Adult Myoclonic Epilepsy (FAME)
06 Décembre 2019 - 7:00AM
Business Wire
- Identification and characterization by GV’s technology of a
new genetic cause for FAME
- Extensive somatic variability in expansion length and
structure highlighted
- Discovery of a correlation between the age at seizure onset
and the length of a specific part of the expansion, opening the
path to the development of a new diagnostic assay
Regulatory News:
GENOMIC VISION (Paris:GV) (FR0011799907 – GV), a biotechnology
company developing molecular and Artificial Intelligence tools to
control quality and safety of genetically modified genome, is
pleased to announce that the Institute of Human Genetics at the
University of Duisburg in Essen (Germany), has developed a new
assay to identify and characterise patients with FAME (Familial
Adult Myoclonic Epilepsy) using Genomic Vision molecular combing
proprietary technology and support. FAME is a rare, very slowly
progressive genetically heterogeneous disorder characterised by
cortical tremor and seizures. The recent publication in the
prestigious journal Nature Communications “Unstable TTTTA/TTTCA
expansions in MARCH6 are associated with Familial Adult Myoclonic
Epilepsy type 3” describes how molecular combing has been
implemented to characterise nucleotide expansions (TTTTA/TTTCA) in
a specific gene for one form of this disorder (FAME3).
Genomic Vision Molecular Combing technique proves to be a robust
and accurate technique to precisely measure the variability in
length and structure of these repeats and to identify for the first
time micro-rearrangements occurring near or within this expansion
site. Professor Christel Depienne, Ph.D. and professor at the
University hospital Essen explains: “We are very pleased that
molecular combing technique allowed us to characterise the
expansions in FAME loci whereas methods such as next generation
sequencing could not provide results with enough coverage and
accuracy. We really believe that this technique has a lot of
potential to characterise all forms of FAME and will lead to the
development of an excellent diagnostic assay which will allow to
improve the management and the quality of life of patients affected
by this condition”.
The fine characterization of FAME3 patients with molecular
combing has revealed an inverse correlation between the age at
seizure onset and the length of the expansion, highlighting the
needs to better characterize expansions in FAME patients. Aaron
Bensimon, co-founder and CEO of Genomic Vision adds: “We know that
Molecular Combing is the appropriate approach to assess all DNA
rearrangements in genetic diseases, and in particular to size
length variations of repeated regions and are confident that it
will become the standard. These variations are the causes of
several neurological diseases that we are currently investigating
to develop new diagnostic assays. We are delighted that the
Institute of Human Genetics, at the University of Duisburg-Essen
uses GV’s technology to characterise the FAME condition”.
ABOUT GENOMIC VISION
Genomic Vision is a biotechnology company developing molecular
and Artificial Intelligence tools to control quality and safety of
genetically modified genome in particular in genome editing
technologies and biomanufacturing processes.
Genomic Vision proprietary molecular tools provide robust
quantitative measurements that are needed to enable high confidence
characterization of DNA alteration in the genome. These tools are
currently use for monitoring DNA replication in cancerous cell, for
early cancer detection and the diagnosis of genetic diseases.
Based near Paris, in Bagneux, the Company has approximately 30
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, CAC® All-Tradable and
EnterNext© PEA-PME 150 indexes
FORWARD LOOKING STATEMENT
This press release contains implicitly or explicitly certain
forward-looking statements concerning Genomic Vision and its
business.
Such forward-looking statements are based on assumptions that
Genomic Vision considers to be reasonable. However, there can be no
assurance that such forward-looking statements will be verified,
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
(www.genomicvision.com) and to the development of economic
conditions, financial markets and the markets in which Genomic
Vision operates. The forward-looking statements contained in this
press release are also subject to risks not yet known to Genomic
Vision or not currently considered material by Genomic Vision. The
occurrence of all or part of such risks could cause actual results,
financial conditions, performance or achievements of Genomic Vision
to be materially different from such forward-looking
statements.
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Genomic Vision Aaron Bensimon Co-fondateur et Président
du Directoire Tél.: +33 1 49 08 07 50
investisseurs@genomicvision.com
Ulysse Communication Bruno Arabian Tel.:+33142682970
barabian@ulysse-communication.com
NewCap Investor Relations / Strategic Communications
Dušan Orešanský / Emmanuel Huynh Tél.: +33 1 44 71 94 92
gv@newcap.eu
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