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Molecular genetic examinations in clinically defined group of patients with syndromic sight and hearing impairment in rare genetic disorders associated with deafblindness in the CR and SR
Čopíková, Jana ; Kremlíková Pourová, Radka (advisor) ; Astl, Jaromír (referee) ; Baxová, Alice (referee)
Deafblindness is a combined impairment of vision and hearing with an incidence of about 1: 8000 children and 1: 5500 adults. The most common genetic causes are the Stickler (STL) and Usher (USH) syndromes. The main goal of this work is to provide an up-to-date overview of STL and USH in the Czech and Slovak Republic (CR and SR), to determine the correlations between the genotype and phenotype in our population and the associated diagnostic criteria. Using sequencing and MLPA we examined 45 patients from 28 families for suspected STL. We found potentially causal variants of STL genes in 39 patients from 22 families. Fifteen different COL2A1 variants (8 being novel) were found in 28 patients from 18 families and 4 novel COL11A1 variants were found in 11 patients from 4 families. We identified the cause of the disease in 79 % of the families. The USH study involved 30 patients from 27 families. The most frequent cause was USH2A pathogenic variants, i.e. 19 variants in 14 families, 9 being novel. Less common were pathogenic variants in MYO7A (6 variants in 3 families, 5 being novel), USH1C and CDH23 (3 variants, 2 being novel, in 2 families both) genes. In 2 families, compound heterozygosity was found for variants in two different USH genes. The deafblindness etiology was clarified for 24 patients from...
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Analysis of marketing strategy of nonprofit organisation
Papcunová, Ivana ; Lhotáková, Markéta (advisor) ; Čopíková, Jana (referee)
This diploma thesis deals with analysis of marketing strategy of Slovak nonprofit and nongovernmental organisation Úsmev ako dar and its project Najmilší koncert roka. This organisation concerns with help and care about children from foster homes. The theoretical part describes nonprofit organisations, its funding and its specific marketing. The practical part begins with description of organisation Úsmev ako dar and its project Najmilší koncert roka, and continues with analysis of its marketing mix and communication strategy, and also the analysis of the marketing strategy for project Najmilší koncert roka, where the results are compared with results from survey.
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