The EU-funded NMD-Chip project* formally finished in September 2011.
The aim of the project was to design, develop and validate new sensitive high throughput DNA arrays to efficiently diagnose patients affected by NMDs. The tools originating from this project are designed to assess all known genes implied in a group of disease at one time, as well as to efficiently analyse chip data through optimised read-out bioinformatics tools, within 72hrs to one week. Besides the development of these new high-throughput molecular diagnostics tools, NMD-Chip also fosters knowledge of NMDs by accelerating the discovery of new disease-causing mutations using a candidate gene approach.
The scientific strategy was to design 4 types of chips, 2 for known NMD genes, and 2 for candidate genes. In each case, both CGH arrays to detect CNV (insertions or deletions), as well as Sequence Capture arrays for massive re-sequencing and point mutation detection, have been set up.
At the end of the project, the two first generations of CGH NMD-chips including all the known genes have been validated, and it is proposed that they become part of the diagnostics workflow to progressively replace the current techniques. The capture chips have been compared with the "in-solution" capture tools that have emerged as an alternative solution during the past two years. Due to the rapid advances of technology, this part of the work has not been completely resolved and it is still unclear whether one approach is better than the other. The CGH chips have been validated on previously characterised DNA with several deletions or insertions in LAMA2, DYSF, CAPN, DMD, PMP22, COL6A genes and others. Several uncharacterised patients have been provided with a molecular diagnosis, thus making the project a success.
*NMD-CHIP was supported through FP7 under contract number 223026