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DNA Methylation Patterns in patients with Neurodevelopmental Disorders
Vítková, Magdalena ; Steiner Mrázová, Lenka (advisor) ; Krejčík, Zdeněk (referee)
Neurodevelopmental disorders (NDDs) are diseases characterized by abnormal development of the central nervous system and brain. Simultaneously, the NDDs may also be associated with specific changes in DNA methylation. The rapid development of sequencing techniques, particularly whole genome sequencing (WGS) and whole exome sequencing (WES), has helped to uncover a number of genes associated with NDDs. Determining the pathogenicity of the variants found remains a challenge in the diagnosis of patients with NDDs. Finding the DNA methylation patterns by microarray or methylation sequencing in patients with NDDs carrying a variant of uncertain significance (VUS) may provide valuable information to address this problem. This thesis demonstrates the feasibility of using these approaches to functionally classify found variants in the KDM5C, ARID1B, ATRX, and BRWD3 genes. The aim was to determine whether there are changes in the DNA methylation patterns of patients with NDDs compared to probands and healthy controls, which could be used to confirm the diagnosis. Key words: DNA methylation patterns, DNA methylation, histone modifications, NDDs, KDM5C, ARID1B, ATRX, BRWD3
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RNA analysis of nasopharyngeal swab
Vítková, Magdalena ; Steiner Mrázová, Lenka (advisor) ; Hojný, Jan (referee)
The nasopharyngeal swab is a very heterogeneous easily available sample which is used to diagnose infectious diseases of the upper respiratory tract. Recently, the swab is increasingly used in biomedical research. The nasopharynx is the place of contact between the external and internal surrounding of an individual and the first immune response to the intrusion of pathogens. Mucosal damage initiates inflammatory and regenerative processes. The nasopharyngeal mucosa is permanently inhabited by a large group of microorganisms which influence the process of the disease. Therefore, the nasopharyngeal swab is a very rich source of host cells and its microbiome. The introduction of the method of massive parallel sequencing, has developed and automated methods for DNA and RNA isolation. It also led to a significant reduction in the cost of their analysis and provides an information about the host genome, the presence of microorganisms and the current level of expression of host and pathogen genes as well. Thanks to the introduction of the single cell sequencing method, it is possible to monitor the interactions of individual cell types under physiological conditions and during the immune response. The aim of this work is to provide an overview of the biological function of the nasopharynx, its cellular...
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Education to support welfare of primary school children through free time activities
Vítková, Magdaléna ; Marádová, Eva (advisor) ; Hanušová, Jaroslava (referee)
This graduation thesis covers the concept of free time and transformation of its understanding in history. It evaluates possibilities of school, and society in general, in support of welfare of primary school children with the use of free time activities. The practical part of the thesis maps opportunities available in this respect in the Prague 6 - Dejvice district. It contains research of opinions of parents and children on free time activities. In the thesis' conclusion a project is being proposed with a goal of introduction of various options of free time activities to children.
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