Genomic Vision has signed an agreement and received a EUR250,000 grant from the Association Francaise contre les Myopathies (AFM).
The funding will be used for the optimisation and validation of a diagnostic test for facio-scapulo-humeral dystrophy (FSHD).
The test, underpinned by Genomic Vision's molecular-combing technology, is undergoing development and validation in partnership with the Universite de la Mediterranee and the Timone Hospital (Assistance Publique des Hopitaux de Marseille).
The clinical and molecular studies are led by Prof Nicolas Levy, 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.
Genomic Vision's molecular-combing process allows individual sections of single DNA molecules to be visualised 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 advantages of the molecular-combing-based FSHD tests, including: an automated, straightforward procedure, greater precision and sensitivity in measurement, and fewer indeterminate results.
The aim of the programme is to accelerate the optimisation 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.
