Treatment News

Genomic Vision Launches an Innovative New Diagnostic Test for facio-scapulo-humeral dystrophy (FSHD)

2.2 from 4 votes
Tuesday, April 17, 2012

PARIS - Genomic Vision, a leading biotechnology company in genetic diagnostic tests using innovative DNA molecular combing technology, has announced 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, France) 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 has been transferred to the medical genetics department of the Timone hospital for routine use. It 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.

"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".

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

Contact :


Francis Temman

Tel: +33(0)1-70-08-61-22

Mob: +33(0)6-50-92-21-56


Source: Genomic Vision
2.2 from 4 votes
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