20.500.12556/RUL-101835 Genetsko ozadje avtizma in zasnova mišjega modela s tehnologijo CRISPR/Cas9. Genetic background of autism and basis for the establishment of a mouse model with CRISPR/Cas9 technology. Motnje avtističnega spektra (MAS) so skupina visoko heterogenih nevroloških motenj v razvoju, na pojav katerih v veliki meri vplivajo genetski dejavniki. Zaradi omejitev uporabe pristopov funkcijske genomike v humani medicini, je oblikovanje ustreznih živalskih modelov za proučevanje kompleksnih bolezni pri človeku nujno potrebno. Čeprav obstaja že veliko mišjih modelov za študije avtizma, ki sicer omogočajo proučevanje posameznih fenotipskih lastnosti, pa vzroki za kompleksen fenotip, ki ga predstavlja MAS, še niso pojasnjeni v zadostni meri. Razvoj novih tehnologij, kot je CRISPR/Cas9, predstavlja velik potencial za usmerjeno poseganje v genom in razvoj novih živalskih modelov, ki omogočajo natančno presojo pomena genetskih modifikacij za nastanek MAS. Diplomska naloga podaja aktualen pregled dosedanjega znanja na področju genomike avtizma in se dotika možnosti za zasnovo novih mišjih modelov za proučevanje MAS z uporabo CRISPR/Cas9 tehnologije. Autism spectrum disorders (ASD) are a group of highly heterogenous neurological disorders that are believed to have strong genetic component. Due to the limited use of approaches of functional genomics in human medicine, creating adequate animal models for the study of complex human diseases shows great potential. There are several already established mouse models of autism that offer insight into single phenotypic traits, although causes for its complex phenotype have not yet been fully understood. Development of new technologies, such as CRISPR/Cas9, represent great capability for targeted genome engineering and establishment of new animal models. With it, comes the capacity to critically asses the meaning of genetic background for ASD development. The thesis provides an up to date overview of current knowledge in the area of autism genomics and concerns on the possibilities for the design of new mouse models of autism with CRISPR/Cas9 technology avtizem genetika funkcijska genomika genski inženiring CRISPR/Cas9 modelni organizem Mus musculus autism genetics functional genomics genetic engineering CRISPR/Cas9 model organism Mus musculus true false false [A. Domadenik] Slovenski jezik Angleški jezik Diplomsko delo/naloga 2018-07-08 07:45:46 2018-07-08 07:45:49 2022-08-15 03:38:46 0000-00-00 00:00:00 2018 0 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 601.4:577.21:616.896:602.6(043.2) 151504 9006201 3362.pdf 3362.pdf 1 112BAE9FAF587F7930A38D6023F6E1E8 11b5097738795053504f9eeeece0c2606cc93e5b2ef67ac894bec5329ce35bb0 6a6c510a-a1b5-11eb-a523-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=112046 3363.pdf 3363.pdf 1 0EA97987CD0E5B85FADA2384568A90B8 8be971836745135191a2f0d011a17308552eb879d34ac9f1df4dd5e80efa0ef4 6a7d001e-a1b5-11eb-a523-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=112047 Biotehniška fakulteta 0 0 0