Genomic Vision is a publicly-traded company on the Euronext regulated market in Paris



Press release




• Genomic Vision and Quest Diagnostics have signed on March 2018 a collaboration with Quest Diagnostics on SMA carrier testing.

This milestone based upon the discovery of small biomarkers of “2+0” carrier status has been achieved according to the plan.

• SMA is the leading genetic cause of death in infants and carrier rate is 1 in 50


Bagneux (France), September 10, 2018 – 7.45 am (CEST)– Genomic Vision (FR0011799907 – GV), a company specializing in the development of diagnostic tests for the early detection of cancers and hereditary diseases, and applications for life sciences research, today announces the second payment from its collaboration with Quest Diagnostics on biomarker identification of currently undetected “2+0” SMA carriers following the Milestone program signed in 2018.

A first Milestone (1a) was reached at the end of 2017, resulting in the design and validation of a new GMC covering with higher precision the complex SMA region. The goal of the second Milestone (1b) consisted in performing complementary experiments and analysis on existing samples in order to identify smaller biomarkers for SMN1 cis-duplication potentially leading to SMA diagnostic test.

During this second phase, African-Americans donor samples received from Quest Diagnostics were processed and analyzed with the GMC designed for Milestone 1a. From this analysis, 7 new patterns were identified as potential biomarkers for SMN1 cis-duplication,3 of them with a size below 100 kb.

The achievement of this second Milestone (1b) is confirming the high potential of molecular combing as a unique existing technic for biomarker discovery in complex genetic regions.

The discovery of smaller biomarkers for cis-duplication of SMN1 based on the hybridization of donor population with a new GMC (Genomic Morse Code) is opening the way for the next milestones of the project for the identification of “2+0” status in SMA carrier diagnostic tests.

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.




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:



Genomic Vision

Aaron Bensimon

Co-fondateur et Président du Directoire

Tél. : +33 1 49 08 07 50

Ulysse Communication

Press Relations

Bruno Arabian

Tel. : +33 1 42 68 29 70


Investor Relations & Strategic Communications

Tel. : +33 1 44 71 94 94




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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 in its Document de Reference filed with the French Autorité des Marchés Financiers (AMF) on March 28, 2017, under number R.17-009, available on the web site of Genomic Vision ( 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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