Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 59 for “"Rare Diseases"”.
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Cannabis for medical use in rare diseases
Rare diseases (RDs) are severe and usually chronically debilitating and RD patients often lack effective and accessible treatment options. Medicinal Cannabis (MC) is used for symptoms such as pain, spasticity, nausea and vomiting, seizures and anxiety which may be experienced by RD patients. The …
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Methods for Determining the Genetic Causes of Rare Diseases
… hundreds of thousands of individuals with rare disorders are undergoing whole-genome sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many …
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Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
Rare disorders affect less than one in 2000 individuals, placing a huge burden on individuals, families and the health care system. Gene discovery is the starting point in understanding the molecular mechanisms underlying these diseases. The advent of next-generation sequencing has accelerated …
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Addressing the Needs of Patients with Rare Diseases in Canada: An Evaluation of Orphan Drug Incentives
While it is currently uncertain whether or not a Canadian orphan drug policy will be given further consideration any time in the near future, this thesis seeks to consider the potential impact that three different orphan drug incentives could be expected to have in Canada. Specifically, market …
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Opportunities to Raise Awareness of Patients with Rare Diseases in Bulgaria // Възможности за повишаване информираността на пациенти с редки заболявания в България
… to study the level of awareness of patients with rare diseases in Bulgaria. The contributions are based on the results of a survey conducted primarily for the dissertation at the Expert Center for Coagulopathies and Rare Anaemia in Varna. Patients with rare diseases suffer from a lack of …
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Impact of Biobanks on Research Outcomes in Rare Diseases：A Systematic Review
Rare diseases (RDs) are a global priority yet are still under researched. When combined, RDs are common, with individual diseases numbering approximately 5,000-8,000, equating to approximately 7% of the population in Europe. Extrapolating this figure for Australia suggests that about 1.2 million …
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Development of a framework for multiomic analysis in disease research
… is particularly promising for patients with rare diseases, which affect one in 17 people in the United Kingdom and have a genetic component in ~80% of individuals. Comprehensive reviews of rare disease omics literature identified that multi-omics may offer improved diagnostic yields, …
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Phenotype – genotype associations in a large cohort of patients with pulmonary arterial hypertension
… pulmonary arterial hypertension (PAH) are rare diseases with a poor prognosis. There is significant heterogeneity in clinical features at diagnosis, and in a proportion of patients there is a genetic cause of the disease. This clinical and genetic heterogeneity has hindered accurate risk …
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Few Shot Learning for Rare Disease Diagnosis
Rare diseases affect 300-400 million people worldwide, yet each disease has very low prevalence, affecting no more than 50 per 100,000 individuals. Many patients with rare genetic conditions remain undiagnosed due to clinicians' lack of experience with the individual diseases and the considerable …
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Nuovi approcci molecolari per lo studio di malattie monogeniche rare: utilizzo dell’exome sequencing per la ricerca di geni malattia
As defined by European Union, rare diseases are a broad range of disorders with prevalence ≤ 5/10000 in general population. Some rare diseases are the result of bacterial or viral infections, allergies and environmental causes, or are degenerative and proliferative, but the most have a genetic …
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The Epidemiology and Health System Impact of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Among Affected Children and Those with False Positive Newborn Screening Results in Ontario, Canada
… research describing the health system impact of rare diseases.
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Think ‘Zebra’
Thousands of rare diseases affect 300 million people globally, but a potential breakthrough in one sheds light on the systemic barriers to research and diagnosis. Ehlers-Danlos Syndrome (EDS) has thirteen subtypes, and, to date, all but one have at least one identified genetic marker. In 2021, …
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Genomic variety estimation with Bayesian nonparametric hierarchies
… to investigate and understand the effect of rare genetic variants in biological human evolution as well as their impact in the developement of rare diseases. To do so, it is imperative to develop a statistical framework to assess what fraction of the overall variation present in human genome …
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Health Information Needs of Patients Living with Myasthenia Gravis: A Narrative Inquiry
Myasthenia gravis (MG) is a rare autoimmune disease that affects the neuromuscular junction of voluntary muscles, resulting in muscular dystrophy. The disease is termed the snowflake disease due to the variability of symptoms, disease progression, and effective treatments for each person. As the …
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Process management applications in biopharmaceutical drug production
… medically necessary medicines for patients with rare diseases around the world. Because of the nature of the products produced at Genzyme, a lapse in operational performance has societal as well as economic impacts. Therefore increased understanding of the complex production systems at Genzyme is …
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Gene misexpression in humans
… has been implicated in cancers and several rare diseases, for example congenital limb malformations, congenital hyperinsulinism and monogenic severe childhood obesity. These studies have identified gain-of-function genetic variants that lead to gene misexpression via specific mechanisms. In …
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Evaluating Insurance Approval Rates of Exome Sequencing and Its Effect On Minority Patients' Access to Genetic Care
… in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other demographic or clinical information correlated to …
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Social determinants of health in patients with congenital rare disease
Rare and orphan diseases represent a substantial public health challenge, yet population-level evidence describing how social determinants of health, institutional context, and patient experience shape outcomes remains limited. Although rare diseases are often framed primarily through genetic and …
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L.E. Factor Test in Acute Disseminated Lupus Erythematosus
Systemic lupus erythematosus is a rare disease. And like other rare diseases it becomes scarcer through lack of consideration. Therefore a high index of suspicion is necessary if the diagnosis is to be made more frequently. Before the discovery of a new diagnostic test, acute disseminated lupus …
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A PERTURB-SEQ SATURATION MUTAGENESIS APPROACH TO DISSECT THE MOLECULAR BASES OF GENETIC DISEASES
… investigation and the therapeutic treatments of rare genetic diseases, which research is hampered by the limited cohort of diagnosed patients and by the difficulty of evaluating the effect of Variants of Unknown Significance (VUS). In silico predictors represent the gold standard of clinical …
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