NMD-Chip HEALTH-2007-1.2-6: High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation

The NMD-Chip project was built considering the expectations of the EU call HEALTH-2007-1.2-6 concerning “High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation”. Indeed, the aim of NMD-Chip is to design, develop and validate new sensitive high throughput DNA arrays to efficiently diagnose patients affected by NMDs, namely Duchenne/Becker muscular dystrophies (DMD/BMD), limb girdle muscular dystrophies (LGMD), congenital muscular dystrophies (CMD), and hereditary motor-sensory neuropathies or Charcot-Marie-Tooth neuropathies (CMT). The new sensitive and reliable tools (reliability from 95 to >99%) originating from this project is aimed allow assessing all known genes implied in a group of disease at one time (2,100,000 probes) and analyzing efficiently chip data through optimized read-out bioinformatics’ tools, within 72hrs to one week. This approach to diagnosis will thus be cheaper than any "gene by gene" approach. Besides the development of these new high throughput molecular diagnostics tools, NMD-Chip will also foster the knowledge of NMDs by identifying new disease causing mutations using a gene candidate approach.