Universitą degli studi di Pavia
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Bayindir research activity
Genotype-phenotype correlation in medicine through genome wide approaches
Massively parallel sequencing technologies, better known by the name of Next Generation Sequencing, in a short time revolutionized the approach to the study of genomics. In the last three years, efforts have been focused successfully on the application of these methods to search for new disease genes, however, for economic reasons and ease of interpretation, the attention shifted on sequencing of exome, the coding portion of the human genome. Sequencing exomes of a small groups of individuals with the same disease, or families in which a Mendelian disorder of unknown etiology exist, has identified the responsible genes, such as Kabuki syndrome , the syndrome of Miller, Schinzel-Giedion syndrome in syndrome and numerous other conditions. The use of target enrichment platforms contaning portions of exones known to be associated to specific generally hetogeneous diseases has made this technique of graet interest for the diagnostic and clinical use. My research is based on the application of the Next Generation Sequencing methods to the study of epilepsy using a targetted platform consisting of exome portions and introne-exone junctions of 106 genes known to be associated to such pathology, as well as application of such technology in other diseases..
Massively parallel sequencing technologies, better known by the name of Next Generation Sequencing, in a short time revolutionized the approach to the study of genomics. In the last three years, efforts have been focused successfully on the application of these methods to search for new disease genes, however, for economic reasons and ease of interpretation, the attention shifted on sequencing of exome, the coding portion of the human genome. Sequencing exomes of a small groups of individuals with the same disease, or families in which a Mendelian disorder of unknown etiology exist, has identified the responsible genes, such as Kabuki syndrome , the syndrome of Miller, Schinzel-Giedion syndrome in syndrome and numerous other conditions. The use of target enrichment platforms contaning portions of exones known to be associated to specific generally hetogeneous diseases has made this technique of graet interest for the diagnostic and clinical use. My research is based on the application of the Next Generation Sequencing methods to the study of epilepsy using a targetted platform consisting of exome portions and introne-exone junctions of 106 genes known to be associated to such pathology, as well as application of such technology in other diseases..
