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.
