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New technology can drive understanding of disease mechanisms


Technological advances are crucial to the understanding of the mechanisms behind neuromuscular disease and the quest for therapies. Raimo Tanzi, an industry partner (Applied Biosystems/Life Technologies) involved in the BIO-NMD project, discusses the advances in next-generation sequencing that are driving genetic research, enabling genetic diagnosis to be made available to increasing numbers of patients and underpinning the work to develop high-throughput "gene chips" in projects such as NMD-chip.


"New discoveries that mark the progress of science may stem from the brilliant ideas of bright scientists, but more often than not are made possible by the progress of technologies for investigation. In this respect biology is no different from other sciences and, in the same way as more powerful telescopes enable astronomers to find new stars and planets, in the analysis of the biological reasons for diseases, more powerful DNA analysers can give a strong push to discoveries. 

After about ten years of technological stability where the first generation of automated  DNA sequencers - those which contributed to the publication of the first sequence of the human genome in 2001 - didn't undergo any major development, suddenly in 2008 a new generation of DNA analyzers was developed and commercialised. These new instruments increased productivity by more than 1 million fold, at the same time decreasing costs by 10,000 fold and bringing the cost of sequencing one billion bases down from 2 million Euros to less than 200. This dramatic leap forward opened the way to completely new methods of investigation which now may involve even the sequencing of the entire genome (3 billion bases) in an individual patient. 

The time was thus ripe to prove the utility and value of the new technology in some challenging areas of research and here the BIO-NMD project came into play. The scope of this aspect of the project is to identify the reasons why some patients affected by neuromuscular diseases develop different levels of severity and/or respond differently to drug treatments even when the defective gene causing the disease is the same. This must involve differences in other areas of the genome of these individuals which, up to now, have not been possible to identify. 

As participants in the BIO-NMD project we aim to develop novel investigational methods to allow the consortium to identify those genes involved in determining different levels of severity of the disease, which would in turn open up the possibility of identifying more effective drugs." 
“Progress in science depends on new techniques, new discoveries, and new ideas, probably in that order.” Sydney Brenner, 2002 Nobel Prize Winner

By: Raimo Tanzi
Partner in the BIO-NMD project
Director Business Development Next Generation Sequencing
Life Technologies


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