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Societal and governmental perspective of patients with Dravet syndrome and Lennox-Gastaut syndrome
Krejčová, Martina ; Klimeš, Jiří (advisor) ; Grega, Dominik (referee)
Societal and governmental perspective of patients with Dravet syndrome and Lennox-Gastaut syndrome Author: Martina Krejčová Supervisor: PharmDr. Jiří Klimeš, Ph.D. Consultant: PharmDr. David Suchánek Department of Social and Clinical Pharmacy, Faculty of Pharmacy in Hradec Králové, Charles University Introduction and aims: Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) are rare diseases. The orphan drug Epidyolex is indicated to reduce the frequency of seizures in these diseases. The aim of this work is to provide a comprehensive overview of orphan drug legislation and the potential of its reimbursement from health insurance and determine the costs of DS and LGS from a societal and governmental perspective. Methods: The data for the analysis is obtained from the questionnaire focused on the social benefit drawdown, increase in household costs, and loss of productivity of patients and their caregivers. Respondents are recruited in a cooperation with patient organisations and specialised centres. The costs from both perspectives are determined by adding the expenses of the health insurance company and the costs of lost productivity (societal perspective), or the costs to the social security system (governmental perspective). The human capital approach method (HCA) is used for the societal...
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Application of novel genomic techniques in studies of pathogenesis of selected rare inherited disorders
Nosková, Lenka ; Kmoch, Stanislav (advisor) ; Sedláček, Zdeněk (referee) ; Živný, Jan (referee)
Rare diseases are a heterogeneous group of disorders. Knowledge of their molecular basis is poor and till recently there were no appropriate methodical approaches due to a limited number of patients. Novel genomic techniques, especially the DNA array technology and the next generation sequencing emerging in last few years, enabled studies of these diseases even in small families and sporadic cases. This PhD thesis focuses on application of novel genomic techniques in studies of rare inherited diseases. It describes a use of DNA array technology in linkage analysis, analysis of differential gene expression, analysis of copy number variations and homozygous mapping, and a use of next generation sequencing technology. Combination of these methods was used for identification of molecular basis of adult neuronal ceroid lipofuscinosis, Rotor syndrome, isolated defect of ATP synthase and mucopolysaccharidosis type IIIC.
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Societal and governmental perspective of patients with Dravet syndrome and Lennox-Gastaut syndrome
Krejčová, Martina ; Klimeš, Jiří (advisor) ; Grega, Dominik (referee)
Societal and governmental perspective of patients with Dravet syndrome and Lennox-Gastaut syndrome Author: Martina Krejčová Supervisor: PharmDr. Jiří Klimeš, Ph.D. Consultant: PharmDr. David Suchánek Department of Social and Clinical Pharmacy, Faculty of Pharmacy in Hradec Králové, Charles University Introduction and aims: Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) are rare diseases. The orphan drug Epidyolex is indicated to reduce the frequency of seizures in these diseases. The aim of this work is to provide a comprehensive overview of orphan drug legislation and the potential of its reimbursement from health insurance and determine the costs of DS and LGS from a societal and governmental perspective. Methods: The data for the analysis is obtained from the questionnaire focused on the social benefit drawdown, increase in household costs, and loss of productivity of patients and their caregivers. Respondents are recruited in a cooperation with patient organisations and specialised centres. The costs from both perspectives are determined by adding the expenses of the health insurance company and the costs of lost productivity (societal perspective), or the costs to the social security system (governmental perspective). The human capital approach method (HCA) is used for the societal...
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Needs and Experience of Families with Child Suffering from Spinal Muscular Atrophy - Current Situation and Challenges for Social and Health Care System in Czech Republic
Schagererová, Iveta ; Štegmannová, Ingrid (advisor) ; Tichá, Růžena (referee)
Situation of families in which a child with spinal muscular atrophy was born, is the topic of this thesis. This rare genetic disease affects neuromuscular system of children and shortens their lives. In most severe cases the failure of respiratory functions comes in the first year of child's life. This thesis is focused on support that Czech system of social and medical services provides to families with this disease. Next, it looks into needs of these families and examine the extent to which the system is able to saturate them. Very important point in this research is also families' perception of quality of care. The research was implemented with use of qualitative methods, mostly by semi-structured interviews which followed families' journey through the system of social and medical services. Then there is a comparison of experience of families with theories, policy and other normative framework and suggestion of steps that should be taken to improve families' satisfaction with services they receive concerning the child's disease. Key words: spinal muscular atrophy, rare diseases, patient's autonomy, patient- centered care, patient journey, quality of care.
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Application of whole-exome sequencing methods for the study of rare inherited diseases
Piherová, Lenka ; Kmoch, Stanislav (advisor) ; Sedláček, Zdeněk (referee) ; Tichý, Boris (referee)
Rare diseases (RD) are a heterogeneous group of diseases that affect about 5% of the world population. RDs represent more than 7.000 different phenotypes and many of them are genetically determined. RDs provide unique biological models for understanding the basic principles of molecular and cellular organization and function of human tissues and organs. Results of studies focused at pathogenesis of RDs are often used to diagnose and treat the affected patients. Significant progress in molecular genetic techniques, specifically the use of the next generation sequencing (NGS) in clinical practice, substantially facilitated and improved efficiency of RD laboratory diagnostics. Moreover, these novel testing algorithms identified the previously unknown molecular causes of many RDs. This thesis demonstrates the utility of NGS techniques and bioinformatics processing of obtained data in studies aimed at understanding molecular basis of selected RDs. These methods led to identification and characterization of causative pathogenic variants in the NDUFAF6 and PLD1 genes among patients affected by the Acadian variant of Fanconi disease and patients with a rare congenital heart defect, respectively. This approach was further used to analyze exomes of a large cohort of patients with different types of...
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Educational Specifics of children with rare disease in special need school
Krejčí, Lucie ; Hájková, Vanda (advisor) ; Zemková, Jaroslava (referee)
This diploma thesis is focused on education specifics of children with a rare disease at a special primary school. In the theoretical part, the author describes three specific rare diseases - mucopolysaccharidosis, Prader-Willi syndrome and Smith-Magenis syndrome. Deals with the manifestations of the disease, treatment options and the arrangement of the education for these children. In the practical part the author inquires how teachers work with a child with a rare disease during the day at special primary school. The thesis also inquires what specifics the educational process brings to teachers and where do the teachers find the sources for their methods of work.
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Molecular basis of selected inherited rare diseases
Hartmannová, Hana
Rare diseases represent a clinically and genetically heterogeneous group of diseases affecting various organs and presenting at different ages. Identification and functional characterization of genetic defects causing individual rare diseases represent unique opportunity to understand biological functions of human genes and gene products as well as to basic pathogenetic mechanisms of individual diseases. This knowledge is prerequisite for their effective diagnosis, specific treatment and prevention and it also opens up an avenue for better understanding of complex diseases. My thesis documents basic conceptual and methodological developments of biochemical genetics, functional cloning, genetic mapping, positional cloning, DNA microarrays and genomic sequencing, which have provided a universal framework for effective characterization of the genetic architecture of almost all human diseases. This conceptual and technological developments are demonstrated on several cases of rare genetic diseases - adenylosuccinate lyase deficiency, mucopolysacharidosis type IIIC, Rotor syndrome, deficiency of ATP synthase, neuronal ceroid lipofuscinosis, GAPO syndrome and X -linked restrictive cardiomyopathy, which genetic and molecular basis I have helped to elucidate.
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Current methods of genome analysis and their use in identification of genetic determinants of human diseases
Stránecký, Viktor ; Kmoch, Stanislav (advisor) ; Kleibl, Zdeněk (referee) ; Pačes, Jan (referee)
The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular basis of human traits and greatly helped to the identification of genes, to the elucidation of their function and to the characterization of metabolic pathways and cellular processes. Over the past decades, linkage analysis has been appropriate approach to search for the genes causing Mendelian diseases and contributed to the identification of many genes, but the genetic cause of many diseases remains unknown. New methods of studying the human genome, microarray technology and massively parallel sequencing (next generation sequencing), represent a way to efficiently identify the cause of genetically determined diseases, based on direct observation of mutations in the genome of affected individuals. These techniques replaced the traditional method of disease gene identification represented by linkage analysis and sequencing of candidate genes and have become the standard approach to elucidate the molecular basis of diseases. In this work, i describe the the results achieved by using these methods - identification of the genes underlying mucopolysacharidosis type IIIC, isolated defect of ATP synthase, Rotor syndrome, autosomal dominat ANCL and GAPO syndrome.
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What is the life of patients with Epidermolysis bullosa in the Czech republic
Pazderová, Natálie ; Kotherová, Zuzana (advisor) ; Tomášková, Vladimíra (referee)
The diploma thesis is focused on the topic of Living with patients with rare diseases - Epidermolysis bullosa in the Czech Republic is focused on identifying the role of individual actors involved in financing support for patients and evaluating the significance of their roles. Patients suffering from rare diseases have a very specific situation in terms of financial contributions from the public budget, as their situation is not common. The diploma thesis is focused on the role of public sector actors, the non-profit sector (the role of Debra) and patient families in financing treatment and necessary care. It examines and compares the share of funding support for these individual actors, especially focusing on the share of funding from the public sector and the non-profit sector, where the majority is occupied by Debra, which focuses on supporting patients with butterfly wing disease. The thesis examines whether the role of the public sector in financing is sufficient and how significantly its role is complemented by the non-profit sector. Subsequently, the quality of life and social construction of patients in the Czech Republic is evaluated, as well as the provision of care and financial assistance for their illness. The situation of patients will be compared with the situation in other European...
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Parameters of Drug Assessment in the Therapy of Rare Diseases
Ornstová, Eva ; Kostřiba, Jan (advisor) ; Klimeš, Jiří (referee)
Charles University in Prague, Faculty of Pharmacy in Hradec Králové Department of Social and Clinical Pharmacy Candidate Mgr. Eva Ornstová Consultant PharmDr. Jan Kostřiba, Ph.D Title of Thesis PARAMETERS OF DRUG ASSESSMENT IN THE THERAPY OF RARE DISEASES KEY WORDS: rare diseases, health technology assessment, health policy, drug policy OBJECTIVES The aim of this study was to find out how can the use of multiple criteria in Health technology assessment (HTA) influence outcome in different drug categories. Especially in relationship to orphan medicinal products. Next objective was to explore, which criteria are the most important in the value of the drug and to measure the difference in the preferences among three stakeholder groups in the Czech Republic. METHODS The set of 10 criteria was selected by the expert panel and 3 model treatments were described. Two-round questionnaire was developed and distributed among highly qualified representatives of three stakeholder groups (patients or carers, clinicians and policy makers). In the first round participants provided weights for each criterion by answering on the scale from 1 to 7. In second round participants scored model treatments according to their performance in each criterion. Normalized weights were combined with scores and treatments were...
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