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Dissertations / Theses on the topic 'Rare diseases'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Bhatia, Gaurav. "Rare variant analysis for common diseases." Diss., [La Jolla] : University of California, San Diego, 2009. http://wwwlib.umi.com/cr/ucsd/fullcit?p1467448.

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Thesis (M.S.)--University of California, San Diego, 2009.<br>Title from first page of PDF file (viewed August 25, 2009). Available via ProQuest Digital Dissertations. Includes bibliographical references (p. 20-23).

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2

Naili, Abdallah. "A Multi Criteria Approach for The Assessment of Drugs for Rare Diseases." Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/35067.

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Evaluating Drugs for Rare Diseases (DRDs) for the purpose of reimbursement and beyond represents a tremendous challenge for most health care priorities. A consensus is set about the irrelevance of cost e ectiveness analysis to evaluate such drugs. The appeal for multi criteria decision aid models seems reasonable as the evaluation of DRDs is indeed multifaceted. However, the application of MCDA for the purpose of evaluating DRDs is yet primitive and simplistic. The present work tries to tackle the issue of evaluating DRDs from a decision maker angle by adopting an innovative robust ord

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3

Bayar, Mohamed Amine. "Randomized Clinical Trials in Oncology with Rare Diseases or Rare Biomarker-based Subtypes." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS441.

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Le design standard des essais randomisés de phase III suppose le recrutement d'un grand nombre de patients pour assurer un risque α de 0.025 unilatéral et une puissance d'au moins 80%. Ceci s'avérer difficile dans les maladies rares, ou encore si le traitement cible une population spécifique définie par un sous-type moléculaire rare. Nous avons évalué par simulation la performance d'une série d'essais randomisés. Au terme de chaque essai, s'il est associé à une amélioration significative, le traitement expérimental devient le contrôle de l'essai suivant. Les designs ont été évalués pour différ

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4

Pepler, A. "Identification of novel disease-causing variants in rare diseases using trio exome sequencing." Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/1565182/.

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The use of trio exome next-generation sequencing (NGS), an analysis of the entire complement of coding exons within an affected index patient and unaffected parents, is increasingly being utilised in the analysis of patients with congenital diseases. This thesis describes the use of trio exome sequencing in the analysis of three distinct circumstances. First, the analysis of a cohort of eight trios in which the index patients suffer from startle disease, characterized by dysfunction of inhibitory glycinergic synapses. This revealed a single case of allelic drop-out of a known GLRA1 p.Y307C var

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5

McElvenny, D. M. "Meta-analysis of rare diseases in occupational epidemiology." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2017. http://researchonline.lshtm.ac.uk/3894558/.

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At the outset of this research in the early 2000s, the application of meta-analysis in observational epidemiology, including occupational epidemiology was regarded as controversial because of the greater potential for bias in such studies compared with randomized controlled clinical trials. This remains true even in 2017. The overall aim for this research is to identify the best approaches to the use of meta-analysis in the occupational health setting, and to summarise through meta-analysis the evidence at to whether or not occupational exposure to formaldehyde is an occupational carcinogen. C

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6

Greene, Daniel John. "Methods for determining the genetic causes of rare diseases." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/270546.

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Thanks to the affordability of DNA sequencing, 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 unexplained rare diseases is hindered by a paucity of cases with a shared molecular aetiology. This thesis presents research into statistical and computational methods for determining the genetic causes of rare diseases. Methods described herein treat important aspects of

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7

Ndungu, Anne. "Rare genetic variants and susceptibility to severe bacterial diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9c5745f9-50f9-469a-8771-2e49e75db7ac.

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Infectious diseases are a major cause of morbidity and mortality worldwide. Streptococcus pneumoniae and Neisseria meningitidis are major causes of severe bacterial disease which can manifest as invasive disease such as bacteraemia and meningitis. Exposure to these pathogens is relatively widespread, yet only a minority of individuals develop invasive disease. A host genetic component to infectious disease susceptibility has been implied from twin and adoptee studies. A role for rare large effect genetic variants in predisposition to infection has been demonstrated through the study of individ

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8

Gopalakrishna-Remani, Venugopal. "Information Supply Chain System for Managing Rare Infectious Diseases." Kent State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=kent1341245050.

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9

BOTTANI, EMANUELA. "Mitochondrial diseases: from gene function to therapy." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/94380.

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Le malattie mitocondriali sono disturbi genetici caratterizzati da difetti di fosforilazione ossidativa causati da mutazioni nel DNA mitocondriale, o in geni nucleari i cui prodotti sono legati alla fosforilazione ossidativa o alla biologia mitocondriale. La prima parte del progetto è stata focalizzata sulla generazione e la caratterizzazione di un modello murino di malattia mitocondriale, Ttc19ko. I pazienti con mutazioni in TTC19 sviluppano danni neurologici e deficit di complesso III. Ttc19 è una proteina mitocondriale che sembra essere coinvolta nell’assemblaggio e/o stabilità del compless

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10

Li, Yali. "DETECTING ASSOCIATION OF COMMON AND RARE VARIANTS WITH COMPLEX DISEASES." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270176845.

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11

Maguire, Joseph, Iskandarani Mahmoud El, Sudharsan Aswin Elamparithi, Apurva Bansal, and Thad Snyder. "A Rare Case of Tolosa-Hunt Syndrome." Digital Commons @ East Tennessee State University, 2018. https://dc.etsu.edu/asrf/2018/schedule/96.

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Tolosa-Hunt syndrome is a rare neurological disorder with an incidence of one case per million. It is a granulomatous inflammatory condition that affects the cavernous sinus and is characterized by painful ophthalmoplegia and headaches. We present a 57-year-old male veteran with past medical history of alcohol use disorder, hepatitis c, hypertension and tobacco use who presented with complaints of double vision and headaches for 2 days. The patient also had a history of well controlled cluster headaches treated with sumatriptan. But, he reported that from several days prior to admission, the

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12

Ogloblinsky, Marie-Sophie. "Statistical strategies leveraging population data to help with the diagnosis of rare diseases." Electronic Thesis or Diss., Brest, 2024. http://www.theses.fr/2024BRES0039.

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La forte hétérogénéité génétique et les modes de transmission complexes des maladies rares posent le défi d'identifier le variant causal si un seul patient le porte, en utilisant des données de séquençage et des méthodes d'analyse standard. Pour aborder ce problème, la méthode PSAP utilise des distributions nulles par gène de scores de pathogénicité CADD pour évaluer la probabilité d'observer un génotype donné dans la population générale. L'objectif de ce travail était de répondre au manque de diagnostic des maladies rares grâce à des méthodes statistiques. Nous proposons PSAP-genomic-regions,

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13

Gosain, Sheena. "Consideration for Rare Diseases in the Context of Drug Reimbursement Processes." Thesis, Université d'Ottawa / University of Ottawa, 2015. http://hdl.handle.net/10393/32434.

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The aims of this thesis were to identify whether justification can be provided for the specialized consideration of drugs for rare diseases (DRDs) within reimbursement decision-making, to understand the processes applied for making coverage decisions for DRDs, and to identify how funding outcomes may differ based on the evaluation process used. The characteristics of DRDs were considered in the frame of developing an ethically acceptable rationale for the differential consideration of DRDs within coverage decision-making. The results revealed that the differing evidence base might provide eth

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14

Zhou, Xiaofei. "Bayesian Lasso for Detecting Rare Genetic Variants Associated with Common Diseases." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1563455460578675.

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15

BASSANINI, GIULIA. "EFFECT OF DIET THERAPY ON GUT MICROBIOME IN RARE GENETIC DISEASES." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/828416.

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In the last decades, several studies have explored the human microbiota in different body niches, notably in the gastrointestinal tract. The gut microbiota has been recognized as an additional organ that co-evolves with humans and interacts with host physiology. The gut microbiota plays a key role in the host metabolism and the extraction of energy from food. Diet is the strongest factor shaping the gut microbiota: differences in macronutrient intake may select the growth of specific microbial taxa. Indeed, the diet provides different substrates such as undigested carbohydrates for ferment

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Hassan, Mohsen. "Knowledge Discovery Considering Domain Literature and Ontologies : Application to Rare Diseases." Thesis, Université de Lorraine, 2017. http://www.theses.fr/2017LORR0092/document.

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De par leur grand nombre et leur sévérité, les maladies rares (MR) constituent un enjeu de santé majeur. Des bases de données de référence, comme Orphanet et Orphadata, répertorient les informations disponibles à propos de ces maladies. Cependant, il est difficile pour ces bases de données de proposer un contenu complet et à jour par rapport à ce qui est disponible dans la littérature. En effet, des millions de publications scientifiques sur ces maladies sont disponibles et leur nombre augmente de façon continue. Par conséquent, il serait très fastidieux d’extraire manuellement et de façon exh

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Hassan, Mohsen. "Knowledge Discovery Considering Domain Literature and Ontologies : Application to Rare Diseases." Electronic Thesis or Diss., Université de Lorraine, 2017. http://www.theses.fr/2017LORR0092.

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De par leur grand nombre et leur sévérité, les maladies rares (MR) constituent un enjeu de santé majeur. Des bases de données de référence, comme Orphanet et Orphadata, répertorient les informations disponibles à propos de ces maladies. Cependant, il est difficile pour ces bases de données de proposer un contenu complet et à jour par rapport à ce qui est disponible dans la littérature. En effet, des millions de publications scientifiques sur ces maladies sont disponibles et leur nombre augmente de façon continue. Par conséquent, il serait très fastidieux d’extraire manuellement et de façon exh

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18

MacDonnell, Samuel. "Recreating Epidermolysis Bullosa Simplex in Zebrafish with Transgenesis." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/38249.

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Epidermolysis Bullosa simplex (EBS) is a rare genetic disorder that is typically inherited in an autosomal dominant fashion and affects approximately 1 out of 20 000 individuals. This disease is caused by mutations in either the KRT14, KRT5 or PLEC genes. These genes code for proteins involved in the formation of the cytoskeleton in basal keratinocytes, which form the basal layer of the epidermis. The cytoskeleton provides structural support to the basal keratinocytes and mutations in these genes cause cytoskeletal malformations, making these cells more susceptible to physical stre

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19

Godfrey, Sean, Victoria MD Hudspeth, and Kelli MD Dunn. "A Zebra of Adrenal Insufficiency, what was once common-now rare." Digital Commons @ East Tennessee State University, 2019. https://dc.etsu.edu/asrf/2019/schedule/240.

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Background: TB was once a common cause of primary adrenal insufficiency, it is now most often autoimmune in the developed world, but there are rarely observed infectious causes, including TB, Fungal, and CMV. The extra-adrenal manifestations typically stem from pulmonary TB. When TB invades the adrenals, imaging of the adrenal glands initially shows hypertrophy, which progresses to fibrosis and calcification in almost half the cases. This adrenal hypertrophy is often a key marker for differentiating tuberculous adrenal insufficiency from autoimmune adrenalitis, in which case adrenals are usual

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20

Hadwen, Jeremiah. "Repurposing Clinic-Tested Drugs to Treat Rare Neurogenetic Diseases by Transcriptional Modulation." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/37581.

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Rare diseases caused by single-gene mutations affect almost one million Canadians. According to the Online Mendelian Inheritance in Man database, ~4,500 rare monogenic diseases have a known cause; but less than 5% of patients have access to disease-modifying drugs. The dearth of accessible drugs for patients suffering from rare genetic diseases is partly due to the astronomical costs of traditional drug development which, when combined with the small target population, make rare disease therapeutics unattractive ventures for the pharmaceutical establishment. The paucity of cost-effective treat

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21

Basagni, Chiara. "Identification of rare variants in complex neurological diseases through next generation sequencing." Doctoral thesis, Università del Piemonte Orientale, 2021. http://hdl.handle.net/11579/127794.

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Complex diseases are caused by a complex interaction among genetic and environmental factors. The Identified common variants occount for only a small fraction of the genetic component of these diseases. Therefore, low (1X<5%) and rare (MAR<15) frequency varlants may help fill in some of the heritability Eap. We have focused on two different neurological diseases, Multiple Sclerosis (MS) and Epilepsy. The general aim of the study was on ole side to dentify new low and fare frequency genetic variants associated to the susceptibility to MS in the Italian continental population, and, on the other

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22

Wiss, Johanna. "Healthcare Priority Setting and Rare Diseases : What Matters When Reimbursing Orphan Drugs." Doctoral thesis, Linköpings universitet, Avdelningen för hälso- och sjukvårdsanalys, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-136820.

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The rarity of a disease can give rise to challenges that differ from conventional diseases. For example, rarity hampers research and development of new drugs, and patients with severe, rare diseases have limited access to qualified treatments. When drugs are available, clinical evidence has higher uncertainty and the drugs can be very expensive. When setting priorities in the healthcare sector, treatments aimed at patients with rare diseases, so called orphan drugs, have become a source of concern. Orphan drugs seldom show solid evidence of effectiveness or cost-effectiveness. Still, treatment

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23

Li, Dunhui. "Antisense oligonucleotide-mediated exon skipping strategies as the treatment for rare diseases." Thesis, Li, Dunhui (2020) Antisense oligonucleotide-mediated exon skipping strategies as the treatment for rare diseases. PhD thesis, Murdoch University, 2020. https://researchrepository.murdoch.edu.au/id/eprint/58829/.

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Antisense oligomer-mediated exon skipping is being developed as a strategy for personalised treatment of genetic disorders through excising “in-frame” exons carrying small mutations or restoring the reading frame around frame-shifting deletions. The rationale behind this strategy for Duchenne muscular dystrophy is the correlation between dystrophin genotype and clinical phenotype. Null dystrophin mutations (frame-shifting deletions/duplications, nonsense mutations, splice site defects) typically lead to the severe Duchenne muscular dystrophy, whereas deletion of an in-frame exon, or exon block

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PALAGANO, ELEONORA. "NEW INSIGHTS IN BONE BIOLOGY FROM EXOME SEQUENCING OF RARE SKELETAL DISEASES." Doctoral thesis, Università degli Studi di Milano, 2018. http://hdl.handle.net/2434/560129.

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Whole exome sequencing (WES) is a powerful tool to identify new molecules involved in skeletal homeostasis. In particular we used WES to establish the molecular diagnosis of two particular skeletal diseases: osteopetrosis and the acrofrontofacionasal dysostosis 1 (AFFND1). The osteopetroses are a group of rare bone diseases characterized by increased bone density due to the failure in bone resorption. Due to their genetic heterogeneity, WES represents a valuable strategy to identify the genetic defect. We analyzed osteopetrotic patients with autosomal dominant osteopetrosis (ADO) and autosoma

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Palladino, G., S. Loizzo, A. Fortuna та ін. "Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ẞ-cyclodextrin". BioMed Central, 2015. http://hdl.handle.net/10150/610327.

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BACKGROUND: The lysosomal storage disorder, Niemann Pick type C1 (NPC1), presents a variable phenotype including neurovisceral and neurological symptoms. 2-Hydroxypropyl-ss-cyclodextrin (HPssCD)-based therapies are presently the most promising route of intervention. While severe cerebellar dysfunction remains the main disabling feature of NPC1, sensory functions including auditory and olfactory ones are also affected. Morphological and functional anomalies of Npc1 (-/-) mouse retina have also been observed, although the functional integrity of the visual pathway from retina to visual cortex is

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McGuire, Marlene. "Expensive drugs for rare diseases : an anthropological analysis of the cultural, political, and economic dimensions of metabolic disease." Thesis, University of British Columbia, 2011. http://hdl.handle.net/2429/39881.

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In the context of Canada’s publicly funded universal health care system, access to potentially life-saving and/or life lengthening orphan drugs costing anywhere from $100,000.00 to $850,000.00 per patient per year is a complicated matter. This study is an anthropological examination of the debates surrounding ‘expensive drugs for rare diseases’, a term that has come to represent the costly treatments developed for rare metabolic diseases like Mucopolysaccharidosis, Pompe Disease, Fabry Disease, and Phenylketonuria. This study was conducted in British Columbia, Canada. It is based on sever

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Festa, Ilaria. "La Cartella Clinica Informatizzata nel percorso diagnostico-assistenziale del Malato Raro: sviluppo e implementazione di un sistema di raccolta e analisi dell'informazione clinica fenotipica e genotipica. Computerized Medical Record in the diagnostic-care of the Rare Diseases: development and implementation of a system for the collection and analysis of clinical phenotypic and genotypic data." Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424446.

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Internationally there is no single definition of a rare disease: in European countries and beyond is determined on the basis of different thresholds of prevalence, in accordance with regulatory requirements: in the European Union (EU), a disease is rare if it has a population prevalence of less than or equal to 1/2000 inhabitants (0.05 %). Rare diseases, from a clinical and epidemiological point of view-, are a very heterogeneous group, with about 5000-8000 entities, mostly with genetic origin, often severe, chronically debilitating, progressive and potentially fatal, representing a major publ

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Rizzardo, Shirin. "An evaluation of Canadians values and attitudes towards expensive drugs for rare diseases." Thesis, University of British Columbia, 2014. http://hdl.handle.net/2429/46537.

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Background: Expensive drugs for rare diseases pose a great challenge for decision-makers involved in determining their funding status due to their extremely high treatment costs, the small patient populations, the uncertainty of evidence for treatment effectiveness and a moral obligation to provide treatment where there is no alternative. The decision to fund a medication is traditionally and primarily guided by two factors: the drug’s cost and its effectiveness. This efficiency-based method is useful in guiding funding decisions for common medications, however is insufficient for rare disease

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Wang, Meng. "Family-Based Bayesian LASSO for Detecting Association of Rare Haplotypes with Common Diseases." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1398896091.

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30

Lim, Teng Ting. "Exploring the genetic landscape of complex diseases using the recessive model." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11490.

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High-throughput sequencing technologies have changed the way we identify, study and understand the role of rare variation in Mendelian diseases. Sequencing in complex diseases have proven to be more challenging to interpret, but methods and approaches are being developed to aid in our understanding of variation in these diseases.

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31

Visibelli, Anna. "Machine learning in Bioinformatics: Novel approaches to Precision Medicine, Life Sciences and Healthcare." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1182445.

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In recent years, biological research revolves around huge amounts of data which are extrapolated due to high-throughput techniques. Thanks to the emergence of omics information and big data, the use of computational tools has become crucial to evaluate the efficacy of medical treatments or deeply investigate the correlation between patients and diseases according to their own molecular characteristics. The Precision Medicine approach is widely applied to the healthcare area, in particular to rare diseases with the creation of patient registries leveraging large amounts of data to discover pote

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Kazakova, Alessia. "Guidance and Practice in the Diagnosis and Management of Two Rare Inherited Metabolic Diseases." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/38059.

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By facilitating timely diagnosis and treatment initiation, population-wide newborn screening programs have led to important reductions in morbidity and mortality for many rare diseases, including medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Newborn screening has also expanded the spectrum of disease severity for MCAD and VLCAD deficiencies to include a higher proportion of milder cases, raising questions about appropriate disease management. To date there has been no systematic attempt to characterize best management pract

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Garcia, Monique. "Impact of Biobanks on Research Outcomes in Rare Diseases：A Systematic Review." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2018. https://ro.ecu.edu.au/theses/2110.

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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 people are affected by RDs, with about 400,000 of those being children. The WA Rare Diseases Strategic Framework 2015-2018, the first strategy for rare diseases in Australia, recognises that in order to alleviate the significant burden of rare diseases, innovative translational tools that facilitate re

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Vitale, Antonio. "Development and implementation of the AIDA international registry for patients with Behçet’s disease." Doctoral thesis, Università di Siena, 2021. http://hdl.handle.net/11365/1160890.

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Objective: the purpose of the present work is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) international Registry specifically dedicated to patients with Behçet’s disease (BD). Methods: the rationale for the Registry, the methodology employed, and the report about its implementation are provided. Results: as for other rare clinical conditions, the reduced epidemiological burden of BD makes it difficult to enroll large numbers of patients in clinical studies. This issue leads to the lack of solid and reliable knowledge about the natural

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Tingley, Kylie. "Developing Recommendations to Guide Future Evidence Generation, Evidence Synthesis, and Knowledge Translation for Rare Diseases." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42030.

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Introduction: The scarcity of rigorous evidence regarding rare disease therapies contributes to uncertainty for stakeholders who make decisions about the use, prescription, or funding of such therapies. My dissertation objective was to integrate stakeholder perspectives and evidence related to how rare disease therapies are evaluated to better understand drivers of uncertainty in decision making and develop an evaluation framework for future evidence generation, synthesis, and decision support. Methods: To better understand the perceived challenges in generating robust treatment effectiveness

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Ganuza, Manuel E. "Assessing the effectiveness of cumulative sum normal- and poisson-based tests for detecting rare diseases." Thesis, Monterey, California. Naval Postgraduate School, 2010. http://hdl.handle.net/10945/4994.

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Plona, Kathleen Lynn. "Exploring molecular pathogenesis to streamline future therapeutics in rare diseases using GSD1a as a model." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1624620295305759.

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MURATORI, FLAMINIA. "Characterization of immunologic mechanisms in rare childhood chronic inflammatory diseases: implication for specific therapeutic intervention." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2008. http://hdl.handle.net/2108/573.

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A partire da osservazioni in clinica di pazienti con rare malattie genetiche della regolazione della risposta immune, in questo studio abbiamo analizzato le alterazioni delle vie coinvolte nei meccanismi di malattia con lo scopo di identificare target terapeutici specifici . In particolare lo studio si è focalizzato su due condizioni, l’una caratterizzata da un’anomalia nella risposta immune innata con flogosi cronica, l’altra caratterizzata da un’alterazione dei meccanismi di mantenimento della self tolerance: i) Una rara malattia autosomica dominante chiamata sindrome PAPA (pyogenic s

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Crespí, Vilimelis Jaume. "New genes involved in rares diseases in ophthalmology." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/377451.

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En esta Tesis se estudian los genes causantes de dos enfermedades raras en Oftalmología: la retinosis pigmentaria asociada a nanoftalmos ( OMIM 611040) y la Tortuosidad arterial retiniana familiar ( OMIN %180000). Son enfermedades genéticas de herencia autosómica recesiva y dominante respectivamente cuyos genes causales se desconocían hasta la fecha. La identificación de los genes implicados en estas enfermedades permite entender mejor base etiopatogénica de estos síndromes así como abrir nuevas estrategias de tratamiento. La Retinosis Pigmentaria (RP) es la principal causa de ceguera he

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Blais, Catherine-Marie. "Evaluating health policy and legal responses : how to reduce barriers and improve access to orphan drugs for rare diseases in Canada." Mémoire, Université de Sherbrooke, 2016. http://hdl.handle.net/11143/9592.

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Abstract : Rare diseases are debilitating conditions often leading to severe clinical manifestations for affected patients. Orphan drugs have been developed to treat these rare diseases affecting a small number of individuals. Incentives in the legal framework aimed to recoup the research and development cost of orphan drugs for pharmaceutical companies have been implemented in the United States and the European Union. At the present time, Canada is still lacking a legal and policy framework for orphan drugs. Several problems at the federal and provincial levels remain: lack of research funds

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COSSU, CARLA. "Nuovi approcci molecolari per lo studio di malattie monogeniche rare: utilizzo dell’exome sequencing per la ricerca di geni malattia." Doctoral thesis, Università degli Studi di Cagliari, 2013. http://hdl.handle.net/11584/266118.

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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 etiology. Discovering alleles underlying genetic conditions is essential for the comprehension of the pathogenesis and for the prevention of the disease through identification of carriers and prenatal diagnosis. Conventional strategies for disease gene discovery, like positional cloning and Sanger sequen

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Yeung, Kit-san, and 楊傑燊. "The use of genome-wide DNA methylation microarray to study both the common and rare diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/207174.

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Graham, Jinko. "Disequilibrium fine-mapping of a rare allele via coalescent models of gene ancestry /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/9568.

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TERRANEO, SILVIA. "WOMEN WITH LYMPANGIOLEIOMYOMATOSIS: FROM RESPIRATORY FUNCTION TO SERUM BIOMARKERS ANALYSIS. PHENOTYPING OF A RARE DISEASE." Doctoral thesis, Università degli Studi di Milano, 2019. http://hdl.handle.net/2434/628877.

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Lymphangioleiomyiomatosis (LAM) is a rare progressive cystic lung disease that affects almost exclusively women. LAM can occur sporadically, or can be associated with tuberous sclerosis complex (TSC); a rare disorder with multiorgan involvement effecting the brain, kidneys, heart, liver, skin and eyes and is associated with intellectual disability, epilepsy and autism spectrum disorders. Dr.Terraneo PhD project was developed with the aim to expand clinical knowledge about diagnosis and follow up as well as to analyze pathogenic aspect of the development of the disease. As a first step of the

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Da, Silva Afitz. "Glycovecteurs pour le ciblage thérapeutique d'une maladie rare lysosomale : la maladie de Pompe." Thesis, Montpellier, 2017. http://www.theses.fr/2017MONTT001.

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Sur la cinquantaine de maladies rares lysosomales, seules 8 peuvent être traitées par enzymothérapie substitutive avec plus ou moins d’efficacité. Il y a donc un réel besoin de développer de nouveaux traitements mais aussi de mieux caractériser les causes de ces maladies. Durant cette thèse nous nous sommes intéressés à la maladie de Pompe qui résulte de l’absence ou de la carence en enzyme lysosomale alpha-glucosidase acide (GAA) responsable de la dégradation du glycogène en glucose dans de nombreux tissus. Actuellement seule la forme infantile de cette maladie peut être traitée alors que la

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Valentini, Samuel. "Computational analysis of effects and interactions among human variants in complex diseases." Doctoral thesis, Università degli studi di Trento, 2022. http://hdl.handle.net/11572/354827.

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In the last years, Genome-Wide Associations Studies (GWAS) found many variants associated with complex diseases. However, the biological and molecular links between these variants and phenotypes are still mostly unknown. Also, even if sample sizes are constantly increasing, the associated variants do not explain all the heritability estimated for many traits. Many hypotheses have been proposed to explain the problem: from variant-variant interactions, the effect of rare and ultra-rare coding variants and also technical biases related to sequencing or statistic on sexual chromosomes. In this

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Wang, Juan. "In silico study of medical decision-making for rare diseases: heterogeneity of decision-makers in a population improves overall benefit." Kyoto University, 2019. http://hdl.handle.net/2433/242364.

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Mansurov, Alay, Sakshi Singal Singal, Sara Masood, and Devapiran Jaishankar. "Myeloid Sarcoma." Digital Commons @ East Tennessee State University, 2019. https://dc.etsu.edu/asrf/2019/schedule/14.

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Acute Myeloid Leukemia (AML) is a potentially fatal disease, more common in an elderly population. The American Cancer Society estimates 21,450 new cases of AML and 10,920 deaths from AML in the United States in 2019. This malignancy originating in the Bone Marrow (BM), usually presents with peripheral blood (PB) abnormalities. Rarely, AML, particularly monoblastic variants can present with extramedullary disease. Here we describe a case of AML presenting with diffuse lymphadenopathy and a biopsy revealing myeloid sarcoma. A 53 years old male developed diffuse lymphadenopathy. Failure of outpa

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Zervas, Thomas. "A descriptive analysis of the immigrant population with a rare disease in the Veneto region, Italy: Utilisation of healthcare services." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422961.

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Introduction: Rare Diseases (RDs) constitute a rather heterogeneous group of disorders that can affect any system. Most RDs are genetic disorders which are often severely disabling, substantially affect life expectancy and impair physical and mental abilities. The number of RD patients in Italy is estimated between 1 and 2 millions. In Italy RDs have been one of the priorities in the policy agenda since 1998. There is a significant body of legislation on the issue of RDs not only on a national level but on a regional level, as well. There is little research on the field of RDs and immigrant po

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Paavola, L. (Liisa). "Salla disease – rare but diverse:a clinical follow-up study of a Finnish patient sample." Doctoral thesis, Oulun yliopisto, 2013. http://urn.fi/urn:isbn:9789526201061.

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Abstract Salla disease (SD) is a rare lysosomal storage disorder, belonging to the Finnish disease heritage. The condition leads to intellectual disabilities. Two main categories of the disease have been identified – a conventional subtype and a severe subtype. The gene locus of SD has been assigned to a restricted region on the long arm of chromosome 6. The gene SLC17A5 is responsible for lysosomal-membrane sialic acid transport. The objective of this study was to describe the neurocognitive developmental spectrum of SD in a long follow-up study. In the original study (1997–1999), the sample

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