Genomic Vision’s Molecular Combing Technology is Set to Innovate Facio-scapulo-humeral Dystrophy (FSHD) Diagnosis

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Genomic Vision has signed an agreement with Association Française contre les Myopathies (AFM) (French Association against Muscular Dystrophy) and has received a grant for validation of diagnostic test and further understanding of FSHD

Paris, France: 16th February 2010 – Genomic Vision, a biotechnology company focused on pioneering nanotechnology-based DNA analysis, has signed an agreement and received a €250k grant from the Association Française contre les Myopathies (AFM) for the optimization and validation of a diagnostic test for facio-scapulo-humeral dystrophy (FSHD). The test, underpinned by Genomic Vision’s breakthrough Molecular Combing technology, is undergoing further development and validation in partnership with the Université de la Méditerranée and the Timone Hospital (Assistance Publique des Hôpitaux de Marseille). The clinical and molecular studies are led by Professor Nicolas Lévy, Head of Service, Department of Medical Genetics Marseille. The collaboration harnesses the benefits of Molecular Combing technology and aims to make this test routine in the clinic. The test is designed to make a radical change to the ease and reliability of FSHD diagnosis.

Facio-scapulo-humeral muscular dystrophy (FSHD) is the third most prevalent muscular dystrophy and is thought to affect 1 in 10,000 to 1 in 20,000 people. About 70% of FSHD patients inherit the disease from a parent, while 30% of cases are sporadic and associated to de novo mutations. The disorder is caused by deletions at a particular site in human DNA that contains numerous copies of a short repeated sequence of DNA. Current diagnostic methods are laborious, difficult to interpret and often provide inconclusive results. Genomic Vision’s Molecular Combing process allows individual sections of single DNA molecules to be visualized directly, and therefore allows the FSHD-specific repeat within its specific genomic environment, to be clearly and precisely identified.

The first results from clinical studies with this novel FSHD test were presented at the 59th American Society of Human Genetics, Honolulu, Hawaii, October 2009 and American FSH Society, Massachusetts, USA, November 2009. The data highlighted the significant advantages of the Molecular Combing-based FSHD tests, including: an automated, straightforward procedure, greater precision and sensitivity in measurement, and fewer indeterminate results. These results were well received and generated a lot of interest from neurologists and geneticists; they also led to the AFM awarding funds for a 12 month development program. The aim of the program is to accelerate the optimization and validation of the FSHD test so that patients will soon be able to obtain a more accurate disease diagnosis, as well as research that allows a deeper understanding of the disease pathology.

“Our company’s goal is to develop and commercialize innovative genetic-based tests that provide more specificity and sensitivity. This FSHD test promises to transform the diagnostic process for this disease, and we believe that it will help clinicians to provide patients with conclusive assessments, and gain a better understanding of the disorder” commented Dr Aaron Bensimon, founder and CEO of Genomic Vision. “By collaborating with Professor Nicolas Lévy we have ensured that the FSHD test is developed to fully match the requirements of clinicians and researchers working with FSHD cases.”

“FSHD is a complex genomic disease with an unknown mechanism, we are convinced that the molecular combing FSHD test will benefit patients by providing both an accurate diagnosis and a better understanding of the disease mechanism,” commented Professor Nicolas Lévy. “We believe that our partnership with Genomic Vision is invaluable, as well as the support from the AFM towards reaching these goals.”

Genomic Vision expects final results from the clinical study at the Timone Hospital, Marseille in spring 2010. Internationally, around 30 laboratories specialize in the molecular testing for FSHD. Genomic Vision will offer the test to both public and private specialists.

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For further information:
At Genomic Vision
Daniel Nerson, COO
Tel: +33 (0)145 688 407
Email: d.nerson@genomicvision.com

About Genomic Vision
Genomic Vision, a biotechnology company based in Paris, develops and commercializes novel single-DNA molecule diagnostic tests and research tools for life sciences, cancer and genetic diseases, that address significant unmet medical needs. The company uses a powerful technique, Molecular Combing, for the direct visualization of single DNA molecules to detect quantitative and qualitative changes in the genome landscape and establish their contribution to pathology. Genomic Vision holds an exclusive license for the technology from the Pasteur Institute.

Genomic Vision develops its products and services in three major markets:

- The medical diagnostic market focusing on DNA diagnostics (cancer genomics, genetic diseases): to develop new DNA-based diagnostic tests
- The pharmaceutical R&D market in the fields of genomics: to develop tests that can help physicians identify how patients are likely to respond to targeted therapies (personalized medicine, pharmacogenomics, cancer cell proliferation)
- The academic laboratories research market: the company will provide Molecular Combing tools for academic research in the field of cancer genetics, cytogenetics, DNA replication)

Genomic Vision's headquarters and biological research facilities are at Paris Santé Cochin, France. The company is supported by a network of collaborations with leading academic researchers and clinicians. The company has raised €10 M since its creation in 2004.

For more information: http://www.genomicvision.com

About Molecular Combing

Molecular Combing is a single-molecule technology that enables the direct visualization of multiple whole genomes and the detection of large genome changes. The technique was co-invented by Dr Aaron Bensimon, for the direct visualization of single DNA molecules attached to specially-treated glass surfaces, which considerably improves the structural and functional analysis of DNA across the genome. As a result of the molecular combing process, the DNA fibers are irreversibly attached, stretched, and aligned uniformly in parallel to each other over the entire surface. It is therefore possible to identify genetic anomalies and to localize genes or particular sequences that hybridize to selected probes in the human genome. The technology is capable of exploring the entire genome at high resolution in a single analysis and provides clear visualization of genomic anomalies that are frequently masked by other technologies.