Biotechnology company Genomic Vision has launched market's first test to diagnose the second most common form of myopathy, Facioscapulohumeral dystrophy (FSHD), a neuromuscular disease that affects one in 10,000 to 20,000.

“In public health terms, this test will transform the process of diagnosing this disease. Its added value is to provide clinicians, patients and families diagnosed with an extremely reliable for this serious condition, where current methods do not always lead to a clear diagnosis,” comments Dr Aaron Bensimon, founder and CEO of Genomic Vision.

The clinical development of FSHDCombing test was conducted in collaboration with the Department of Medical Genetics Prof. Nicolas Levy, the hospital of the Timone (Marseille) and the University of the Mediterranean, and with financial support from the French Association against Myopathies (AFM).

“Genomic Vision reaches milestone in its development with the launch of this first test developed through our innovative technology of molecular combing and support of our partners. This initial success also validates our approach consisting in scientific and commercial work closely with clinicians in direct contact with the disease in hospitals and research centers, then to transfer our technology platform,” said the CEO of Genomic Vision.

The diagnostic platform of FSH dystrophy developed by Genomic Vision has been transferred to the hospital La Timone, in the department of medical genetics. The test is now routinely used each year and will involve 300 to 500 patients.

Marseille addition, the test FSHDCombing is currently deployed in beta testing in Germany, in the service of Professor Clemens Müller-Reible Institute of Human Genetics Centre of Biology, University of Würzburg. A total of thirty laboratories around the globe making genetic tests for diagnosing this disease.

“The current diagnostic methods are laborious and lead to results difficult to interpret and inconclusive in 20 to 40 per cent of cases. But most important is the quality of the result. By responding unambiguously test our FSHD will allow a very precise diagnosis,” notes Dr Peter Walrafen , project manager for Genomic Vision. “This is an important issue for the patient for whom the ' uncertainty is particularly hard to bear. This will also, when it is detected a case in a family, genetic counselling for other family members.”

The technology of molecular combing of DNA used by Genomic Vision greatly enhances the structural and functional analysis of DNA molecules. DNA fibers are stretched on glass slides, as "combed" to some extent, aligned and evenly over the entire surface. It then becomes possible to identify genetic abnormalities in locating genes or specific sequences in the genome of the patient by labeling with genetic markers, an approach developed by Genomic Vision as the Morse Code genomics. This exploration of the entire genome at high resolution in a simple analysis allows a clear visualization and direct genetic defects often undetectable by current technologies.

In the case of FSH dystrophy, can quantify and clearly and precisely the repeating units of a particular DNA sequence.

Genomic Vision holds an exclusive license from the Institut Pasteur for this technology, including Dr Aaron Bensimon is the co-inventor.

Also called myopathy Landouzy-Dejerine dystrophy facio-scapulohumeral muscular disease is associated with a chromosomal abnormality. Second type of muscular dystrophy the most common, it affects between one in 10,000 and one in 20,000 and results in a myopathy usually starting in the shoulder girdle (the muscles around the shoulder blade), then the arms, legs, then the entire musculature. The disease is caused by an abnormality at the end of chromosome 4 (4q35 in the long arm), the low number of repetitions of patterns of DNA sequence called D4Z4. Patients with FSHD have fewer than 11 repeat units, healthy people between 15 and 100.Dans over 70 per cent of cases it is hereditary. In 30 per cent, it occurs sporadically (with no family history) and then it is associated with mutations in the DNA replication.

Founded in 2004, Genomic Vision is a biotechnology company specializing in the development of tests for the diagnosis of genetic diseases and cancer genomics.