Grant
Genomic Vision, a specialist in nanotechnology-based DNA analysis, has signed an agreement and received a €250,000 grant from the Association Française contre les Myopathies (AFM) for the optimisation and validation of a diagnostic test for facio-scapulo-humeral dystrophy (FSHD).
The test, based on Genomic Vision’s 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 collaboration aims to make this test routine in the clinic and make a radical change to the ease and reliability of FSHD diagnosis.
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 per cent of FSHD patients inherit the disease, while 30 per cent of cases are sporadic and associated to de novo mutations. The disorder is caused by deletions at a particular site in 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 visualised directly so that the FSHD-specific repeat can be clearly and precisely identified within its specific genomic environment.
“Our company’s goal is to develop and commercialise 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,” said Aaron Bensimon, founder and CEO of Genomic Vision.
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