|
|
Analysis of genomic variants in patients with nerodevelopmental diseases with a focus on epilepsy.
Zůnová, Hana ; Vlčková, Markéta (advisor) ; Zemanová, Zuzana (referee) ; Fajkusová, Lenka (referee)
Epilepsy is a chronic neurological disease affecting millions of people worlwide. The etiology of epilepsy is heterogenous. Published studies confirm a strong genetic basis. While the genetic causes play a huge role in the development of epilepsy, the etiology remains unclear in many patiens. We present a cohort of 400 patients with epilepsy, who underwent whole genome testing focused on the detection of copy number variants (CNVs). The main criterion for inclusion into the group was manifestation of epilepsy in isolated form or in combination with other neurodevelopmental disorder or congenital anomalies. Genome-wide analysis was performed using two different platforms of array CGH (array comparative genome hybridization): SurePrint G3 CGH ISCA platform 4x180K and 8x60K (Agilent Technologies). For evaluation of clinical impact of detected CNVs different databases (DGV, ClinVar, OMIM, DECIPHER) and relevant articles were used. In our cohort we have detected 2730 CNVs in total and 86 of them (detected in 76 individuals), were evaluated as possibly clinically relevant - 82 CNVs were evaluated as a possible cause of epilepsy and 4 of them were evaluated as secondary finding without relationship to the patients' phenotype. Regarding to the current classification, 21/86 CNVs have been refered as...
|
|
| |
|
|
The issue of inclusion of organic agriculture and food industry in the teaching of natural science and biology at primary and secondary schools
Zunová, Hana ; Skýbová, Jana (advisor) ; Pavlasová, Lenka (referee)
This thesis called The issue of inclusion of organic agriculture and food industry in the teaching of natural science and biology at primary and secondary schools deals with organic farming, its present situation and current legislation in the Czech Republic and the European Union. The theme of organic farming and organic food is conceived in a broader context and it is followed by other related topics, such as food additives, transgenic organisms (GMOs) and Fair Trade. The primary objective is to provide to biology teachers in primary and secondary schools guidance on how to present this issue to their pupils and students. Based on the results of a questionnaire survey two hypotheses were verified: 1. Students know what the organic food is and can enumerate the basic tenets of organic farming. 2. Teachers of natural science and biology at the primary and secondary schools do not include organic farming issues in their lessons. Both hypotheses háve been refuted. Objectives of this thesis are: 1) To identify options of including the topič of organic farming in the teaching of biology and cross subjects, in accordance with Educational Programmes for elementary and secondary schools. 2) To create educational materials about organic farming (Microsoft PowerPoint presentation for teachers; to create or modify...
|
guest ::
RSS feed.