NEW YORK (GenomeWeb News) – Genomic Vision, a Paris-based molecular diagnostics firm, has received a €250,000 ($344,000) 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 firm is developing the test using its molecular combing technology, which allows individual sections of single DNA molecules to be visualized directly. It said that this enables the FSHD-specific repeat within its genomic environment to be clearly and precisely identified.
Genomic Vision is developing and validating the test in collaboration with the Université de la Méditerranée and the Timone Hospital (Assistance Publique des Hôpitaux de Marseille). The firm expects final results this spring from clinical studies on the test.
"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," Aaron Bensimon, founder and CEO of Genomic Vision, said in a statement.
FSHD is the third most prevalent muscular dystrophy and is believed to affect between one in 10,000 and one in 20,000 people. Genomic Vision said that around 70 percent of FSHD patients inherit the disease from a parent, while the other 30 percent of cases are sporadic and associated with de novo mutations.