Genetsko ozadje avtizma in zasnova mišjega modela s tehnologijo CRISPR/Cas9.

Domadenik, Anja (author), Dovč, Peter (mentor)

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.

• Language: Slovenian
• Keywords: avtizem, genetika, funkcijska genomika, genski inženiring, CRISPR/Cas9, modelni organizem, Mus musculus
• Work type: Bachelor thesis/paper
• Typology: 2.11 - Undergraduate Thesis
• Organization: BF - Biotechnical Faculty
• Publisher: [A. Domadenik]
• Year: 2018
• PID: 20.500.12556/RUL-101835
• UDC: 601.4:577.21:616.896:602.6(043.2)
• COBISS.SI-ID: 9006201
• Publication date in RUL: 08.07.2018

Secondary language

• Language: English
• Title: Genetic background of autism and basis for the establishment of a mouse model with CRISPR/Cas9 technology.

Abstract

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

• Keywords: autism, genetics, functional genomics, genetic engineering, CRISPR/Cas9, model organism, Mus musculus