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Genomic Vision launches an innovative diagnostic test for facio-scapulo-humeral dystrophy (FSHD)

Genomic Vision, a leading biotechnology company in genetic diagnostic tests using innovative DNA molecular combing technology, has announced today the market launch of its first test designed to diagnose the second most prevalent form of dystrophy, facio-scapulo-humeral dystrophy (FSHD), a neuromuscular disease that affects one in 10.000 to one in 20.000 people worldwide.

The clinical program for the FSHDCombing test was developed in collaboration with the medical genetics department of Prof. Nicolas Lévy, at the Timone hospital (Marseille) and the Université de la Méditerranée, and with financial support from the Association française contre les myopathies (AFM).

“In terms of public health, this test will transform the diagnostic process for this disease. Its value lies in providing clinicians, patients and families with an extremely reliable diagnosis for this serious pathology, where current methods do not always enable a clear diagnosis to be established”, welcomes Dr Aaron Bensimon, founder and CEO of Genomic Vision.

The FSH dystrophy diagnostic platform developed by Genomic Vision has been transferred to the medical genetics department of Prof.Nicolas Lévy at the Timone hospital. Today the test is in routine use and will concern 300 to 500 patients every year.

“Genomic Vision has reached a significant milestone in its development with the launch of this first test, developed thanks to our innovative molecular combing technology and the support of our partners. This initial success also confirms our scientific and commercial approach, which consists of working closely with clinicians directly in contact with the disease in hospitals and research centers, and transferring our technological platform to them”, underlines the CEO of Genomic Vision.

As well as the Timone hospital in Marseille, the FSHD test is currently being deployed as a beta-test in Germany, in the department of Prof. Clemens Müller-Reible at the human genetics institute in the Biology Center of the University of Würzburg.

In total, around thirty laboratories around the world are conducting genetic diagnostic tests for this illness.

“Current diagnostic methods are laborious and provide results that are difficult to interpret and inconclusive in 20 to 40% of cases. The quality of the result is crucial. By providing an unambiguous answer, our FSHDCombing test will enable a very accurate diagnosis”, points out Dr Pierre Walrafen, project manager at Genomic Vision. “The stakes are high for the patient for whom the uncertainty is especially difficult to bear. When a case is detected in a family, it will also enable us to provide genetic advice to other members of that family”.

The DNA molecular combing technology used by Genomic Vision considerably enhances the structural and functional analysis of DNA molecules. DNA fibers are stretched out on glass slides, as if “combed”, and uniformly aligned over the entire surface. It is then possible to identify genetic anomalies by locating genes or particular sequences on the patient’s genome using genetic markers. This high-resolution exploration of the entire genome in a single analysis enables a clear and direct visualization of genetic anomalies undetectable using other technologies.

In the case of FSH dystrophy, it also enables repeat arrays to be clearly and accurately quantified.

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy, Nguyen K, Walrafen P, Bernard R, Attarian S, Chaix C, Vovan C, Renard E, Dufrane N, Pouget J, Vannier A, Bensimon A, Lévy N., Ann Neurol. 2011 Oct;70(4):627-33

About facio-scapulo-humeral dystrophy  
Also known as Landouzy-Dejerine’s dystrophy, facio-scapulo-humeral dystrophy is a muscular disease linked to a chromosomal anomaly. The second most prevalent form of dystrophy, it affects one in 10.000 to one in 20.000 people. It causes muscular damage and generally starts with the scapular girdle (muscles around the shoulder blades), then the arms, the lower limbs, and finally the whole musculature. The illness is due to an anomaly on the end of chromosome 4 (long arm of 4q35), the low number of repeat arrays of a DNA sequence called D4Z4. Patients affected with FSHD have less than 11 repeat arrays, whereas healthy people have between 15 and more than 100. In 70% of cases, it is hereditary.  30% of cases are sporadic (with no family history) and is then caused by mutations when the DNA replicates.

About Genomic Vision
Founded in 2004, Genomic Vision is a biotechnologies company specializing in developing diagnostic tests for genetic diseases and in cancer genomics. It uses an extremely powerful technology, molecular combing, which allows direct visualization of individual DNA molecules in order to detect quantitative and qualitative variations in the genome and determine their contribution in a target pathology. Genomic Vision holds an exclusive license from the Pasteur Institute for this technology. The company headquarters and research facilities are located in Bagneux (near Paris), and it employs 40 people with sales of 3.2 million Euros in 2011. The company has raised 10 million Euros since its creation. For more information: