Aims of the NMD-chip project

The NMD-Chip project was funded by the European Commission under its seventh framework programme (FP7) under the call for “High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation”.

The aim of NMD-Chip is to design, develop and validate new sensitive high throughput DNA arrays to efficiently diagnose patients affected by neuromuscular disorders. The project is focusing on Duchenne / Becker Muscular Dystrophies (DMD/BMD), Limb Girdle Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), and Hereditary Motor-Sensory Neuropathies and Charcot-Marie-Tooth Neuropathies (CMT).

The new sensitive and reliable tools (reliability from 95 to >99%) originating from this project will allow the assessment of all known genes implicated in a group of diseases at one time (2,100,000 probes), and the efficient analysis of chip data through optimised read-out bioinformatic tools will provide results within 72 hours to one week and thus be cheaper than any "gene by gene" approach. Developing these NMD-Chips could allow the cost of molecular diagnostics to be decreased by a factor of 10.