témavezető: Bene Judit
helyszín (magyar oldal): PTE ÁOK Pécs, Szigeti u. 12. helyszín rövidítés: ÁOK
A kutatási téma leírása:
Based on the results of the Human Genome Project and ENCODE Project the sequence and more than 80 % of the function of the human genome has been revealed. Although this information contributes to the understanding of several biochemical and signaling pathways, however, the pathogenesis of several diseases have not been clarified. Due to the explosive spread of the modern, principally new genetic, genomic methods, such as next-generation sequencing, nowadays it has become possible to annotate other genes involved in the development of the variable disease phenotype in a certain disorder using whole genome sequencing (WGS). The introduction of this technology has also led to a breakthrough in transcriptional research. In contrast to earlier hybridization-based gene expression studies where the sequence has to be known a priori, RNA sequencing allows the identification of novel transcripts and splicing variants. Several congenital disorders are caused by a genetic defect that can impair the metabolism of one or more biochemically detectable metabolites: it may cause increase in levels or accumulation of some metabolites in tissues, while decreases in other metabolites.
The investigations of the pathogenesis of genetically determined disorders with modern Genomic, transcriptomic and metabolomic methodology will be the scope of the PhD project.
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