Određivanje kliničke važnosti strukturnih varijacija evolucijski novih gena kod ispitanika s neurorazvojnim poremećajima

master's thesis

• Title (english): Determination of clinical significance of structural variations of evolutionary novel genes in patients with neurodevelopmental disorders
• Author: Valentina Klein
• Mentor: Martina Rinčić (mentor)
• Mentor: Petra Korać (komentor)
• Committee member: Petra Korać (predsjednik povjerenstva)
• Committee member: Inga Urlić (član povjerenstva)
• Committee member: Vesna Benković (član povjerenstva)
• Committee member: Maja Matulić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2024-09-13, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Neurorazvojni poremećaji predstavljaju heterogenu skupinu stanja koja utječu na normalan razvoj
mozga, uključujući oštećenja kognitivnih i/ili motoričkih funkcija. U posljednjim desetljećima,
strukturne varijacije genoma postale su dobro utvrđena etiologija neurorazvojnih poremećaja.
Međutim zbog svoje kompleksnosti sama sekvenca ljudskog genoma nije bila u potpunosti poznata
do unatrag nekoliko godina. Kompleksnost ljudskog genoma moguće je dokučiti upotrebom
tehnologije sekvenciranja 3. generacije. Ovim istraživanjem analizirani su podaci dobiveni
sekvenciranjem nanoporama dugih odsječaka DNA. U radu su vizualizirane strukturne varijacije u
evolucijski novim genima 7 pacijenata s neutvrđenim uzrokom neurorazvojnih poremećaja.
Dodatno su pretražene javno dostupne baze podataka koje sadrže informacije o odabranim genima
i njihovim strukturnim varijantama s ciljem dobivanja cjelovite slike o pojedinom genu u ulozi
razvoja i održavanja funkcija mozga. Detaljna analiza takvih sekvenci pomaže u evaluaciji
rezultata i određivanju kliničkog značaja strukturnih varijacija evolucijski novih gena što je ključno
za dijagnostiku, terapiju i prevenciju neurorazvojnih poremećaja. Rezultati ovog rada dali su nove
kandidat-gene potencijalno uključene u patogenezu neurorazvojnih poremećaja.

Abstract (english)

Neurodevelopmental disorders represent a heterogeneous group of conditions that affect normal
brain development, including cognitive and/or motor impairments. In recent decades, genomic
structural variations have become a well-established etiology of neurodevelopmental disorders.
However, due to its complexity, the sequence of the human genome itself was not fully known
until a few years ago. The complexity of the human genome can be understood using 3rd generation
sequencing technology. This research analyzed data obtained by long-read nanopore DNA
sequencing. Structural variations in evolutionarily novel genes were visualized in seven patients
with neurodevelopmental disorders of unknown cause. Additionally, publicly available databases
containing information on selected genes and their structural variants were searched to provide a
comprehensive understanding of each gene's role in brain development and function. Detailed
analysis of such sequences helps in evaluating the results and determining the clinical significance
of structural variations in evolutionarily novel genes, which is essential for the diagnosis, therapy
and prevention of neurodevelopmental disorders. The results of this study identified new candidategenes potentially involved in the pathogenesis of neurodevelopmental disorders.

• Keywords: ljudski genom; NRP; baze podataka; Nanopore sekvenciranje; SV; patogeneza
• Keywords (english): human genome; NRP; databases; Nanopore sequencing; SV; pathogenesis
• Language: croatian
• URN:NBN: urn:nbn:hr:217:922631
• Study programme: Title: Experimental Biology-University graduate programme; Study programme type: university; Study level: graduate; Academic / professional title: sveučilišni/a magistar/magistra eksperimentalne biologije (sveučilišni/a magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-09-22 09:32:46