LINGUAGGIO MACCHINA

The CRS4 (Center for Advanced Studies, Research and Development in Sardinia) opens to international collaboration with partners who want to test the use of genomic sequencing, bioinformatics and data analysis technologies. The machines of the  NEXT massive sequencing facility  located in the Technology Park of Pula (Cagliari), will be made available to researchers from all over the world who will have the opportunity to request access remotely with a priority procedure - i.e. without having to physically move to the Pula laboratories - to carry out experiments useful for studying and developing new diagnostic methodologies, new therapies, carrying out sequence studies to support the development of vaccines, identifying the best treatments for the treatment of the disease, supporting epidemiological monitoring useful for modulating the impact of public health interventions, using massive sequencing technologies on samples of non-pathogenic nucleic acids. The call is highli...

Il 28 marzo 1998 ho avuto la fortuna di visitare il Museo Archeologico di Bolzano. Il reperto principale era Ötzi, la mummia di Similaun. Oggi Ötzi fa di nuovo notizia, grazie ai risultati di uno studio condotto dai ricercatori dell'Accademia Europea di Bolzano (Institute for Mummies and the Iceman, EURAC) e di due Istituti di genetica umana delle Università di Tubinga e dello Saarland. L'articolo, pubblicato su "Nature Communications", si basa sull'analisi del genoma completo dell'uomo vissuto 5 mila anni fa. Una delle scoperte più interessanti è che la mummia evidenzia una predisposizione genetica e uno dei sintomi dell'arteriosclerosi. L’analisi del genoma di Ötzi ha inoltre evidenziato tracce di borrelia, una famiglia di batteri che provoca una malattia infettiva trasmessa dalle zecche. Un risultato di rilievo è anche l'appartenza di Ötzi a un aplogruppo Y molto raro in Europa (oggi presente in Sardegna e in Corsica), così come altre sue caratte...

The Istituto di Ricerca Genetica e Biomedica (CNR-IRGB) and the Centro di Ricerca, Sviluppo e Studi Superiori in Sardegna (CRS4) are organizing a Summer School on Next Generation Sequencing and Genome Wide Association Studies from 5 to 9 September 2011 . The Sardinian population has long been of wide interest for human geneticists. Studies have examined and clarified the molecular bases of monogenic diseases including Thalassemia and Wilson disease and, more recently, genetic factors associated with common complex traits and diseases. Sardinia’s population has been reasonably large-sized during its history (since its foundation during the last Ice Age). There is considerable evidence that a relevant part of Pre-Neolithic genetic variation has been retained with a lack of large-scale gene inflow from non-native populations: therefore Sardinia represents a unique site for comprehensive large sequencing efforts to detect genetic variation that is relevant to all human populations and...