Breve storia della “Rivoluzione Genomica” e sue implicazioni per gli istituti neurologici

The “original” DNA sequencing methodology is the Sanger method, which has excellent accuracy and reasonable read length but very low throughput. In order to sequence longer sections of DNA, shotgun sequencing has been introduced for sequencing the entire human genome in the Human Genome Project (HGP). Unfortunately, the formidable size of the diploid human genome has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, in the last ten years have been introduced high-throughput sequencing (or Next-Generation Sequencing, NGS) technologies that parallelizing the sequencing process, are able to improve the throughput and to lower the cost of DNA sequencing. NGS is very important, in particular if applied to neurological disease. This kind of disorders are complex in various ways; multiple risk factors, environmental as well as genetic, contribute to the disorder individually or by means of interaction. Also genetic component is complex: genetic heterogeneity (production of apparently identical disorders by different genetic mechanisms or by genes at different loci) has been described in a lot of neurological disorders. Therefore genetic analysis in this field are complex and require a lot of time. NGS approaches will allow to scan several genes responsible of a pathology, faster and cheaper than ever, improving the quality of the process that in this year has been too slow and expensive to produce molecular information useful for the clinical management of a neurological patient.