{"id":{"repo_id":"toronto-retro","oai_identifier":"oai:utoronto.scholaris.ca:1807/144826"},"canonical_url":"https://search.dev.ndltd.org/etd/toronto-retro/oai:utoronto.scholaris.ca:1807/144826","repository":{"repo_id":"toronto-retro","name":"University of Toronto","base_url":"https://utoronto.scholaris.ca/server/oai/request"},"display":{"title":"Primary Ciliary Dyskinesia: An Epidemiological Exploration. Furthering our understanding of the burden of disease in PCD","abstract":"Primary ciliary dyskinesia (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, disease frequency estimates in specific ethnic groups and geographical regions, the expansion of diagnostic tests, phenotype/genotype associations and longitudinal lung function. However, PCD continues to be globally underrecognized, in part, due to the heterogeneous and non-specific clinical presentation, and the lack of a gold standard diagnostic test. There are also known limitations with lung function monitoring in PCD, in that spirometry, the most common lung function test, is known to be insensitive to the early stages of lung disease or clinical change. Ultimately, these challenges have impacted the breadth of PCD research relative to other airway diseases, limited available therapeutic options, and decreased interest from industry to conduct interventional trials in this patient population. Therefore, in my dissertation I fill these knowledge gaps by tackling various questions related to the burden of disease in PCD, by employing different clinical epidemiologic techniques.","abstract_html":"Primary ciliary dyskinesia (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, disease frequency estimates in specific ethnic groups and geographical regions, the expansion of diagnostic tests, phenotype/genotype associations and longitudinal lung function. However, PCD continues to be globally underrecognized, in part, due to the heterogeneous and non-specific clinical presentation, and the lack of a gold standard diagnostic test. There are also known limitations with lung function monitoring in PCD, in that spirometry, the most common lung function test, is known to be insensitive to the early stages of lung disease or clinical change. Ultimately, these challenges have impacted the breadth of PCD research relative to other airway diseases, limited available therapeutic options, and decreased interest from industry to conduct interventional trials in this patient population. Therefore, in my dissertation I fill these knowledge gaps by tackling various questions related to the burden of disease in PCD, by employing different clinical epidemiologic techniques.","abstract_has_math":false,"creators":["Wee, Wallace"],"institution":null,"degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":"Dalla Lana School of Public Health","school":null,"contributors":[],"advisors":["Dell, Sharon D"],"committee_chairs":[],"committee_members":[],"year":2025,"date_issued":"2025-06","date_published":"2025-06","updated_at":"2026-07-27T21:28:13Z","subjects":["Biostatistics","Case ascertainment","Clinical epidemiology","Functional imaging","Pediatrics","Primary ciliary dyskinesia"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://hdl.handle.net/1807/144826","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Dell, Sharon D"]},{"key":"dc:contributor.department","label":"Department","values":["Dalla Lana School of Public Health"]},{"key":"dc:creator","label":"Author","values":["Wee, Wallace"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2025-06"]},{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2025-07-30T15:31:28Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2025-07-30T15:31:28Z"]},{"key":"dc:date.issued","label":"Date","values":["2025-06"]},{"key":"dc:type","label":"Dc Type","values":["Thesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Biostatistics","Case ascertainment","Clinical epidemiology","Functional imaging","Pediatrics","Primary ciliary dyskinesia"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["https://hdl.handle.net/1807/144826"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Primary ciliary dyskinesia (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, disease frequency estimates in specific ethnic groups and geographical regions, the expansion of diagnostic tests, phenotype/genotype associations and longitudinal lung function. However, PCD continues to be globally underrecognized, in part, due to the heterogeneous and non-specific clinical presentation, and the lack of a gold standard diagnostic test. There are also known limitations with lung function monitoring in PCD, in that spirometry, the most common lung function test, is known to be insensitive to the early stages of lung disease or clinical change. Ultimately, these challenges have impacted the breadth of PCD research relative to other airway diseases, limited available therapeutic options, and decreased interest from industry to conduct interventional trials in this patient population. Therefore, in my dissertation I fill these knowledge gaps by tackling various questions related to the burden of disease in PCD, by employing different clinical epidemiologic techniques."]},{"key":"dc:description.degree","label":"Dc Description Degree","values":["Ph.D."]},{"key":"dc:title","label":"Title","values":["Primary Ciliary Dyskinesia: An Epidemiological Exploration. Furthering our understanding of the burden of disease in PCD"]}]}],"canonical_facts":{"dc:contributor.advisor":["Dell, Sharon D"],"dc:contributor.department":["Dalla Lana School of Public Health"],"dc:creator":["Wee, Wallace"],"dc:date":["2025-06"],"dc:date.accessioned":["2025-07-30T15:31:28Z"],"dc:date.available":["2025-07-30T15:31:28Z"],"dc:date.issued":["2025-06"],"dc:description.abstract":["Primary ciliary dyskinesia (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, disease frequency estimates in specific ethnic groups and geographical regions, the expansion of diagnostic tests, phenotype/genotype associations and longitudinal lung function. However, PCD continues to be globally underrecognized, in part, due to the heterogeneous and non-specific clinical presentation, and the lack of a gold standard diagnostic test. There are also known limitations with lung function monitoring in PCD, in that spirometry, the most common lung function test, is known to be insensitive to the early stages of lung disease or clinical change. Ultimately, these challenges have impacted the breadth of PCD research relative to other airway diseases, limited available therapeutic options, and decreased interest from industry to conduct interventional trials in this patient population. Therefore, in my dissertation I fill these knowledge gaps by tackling various questions related to the burden of disease in PCD, by employing different clinical epidemiologic techniques."],"dc:description.degree":["Ph.D."],"dc:identifier.uri":["https://hdl.handle.net/1807/144826"],"dc:subject":["Biostatistics","Case ascertainment","Clinical epidemiology","Functional imaging","Pediatrics","Primary ciliary dyskinesia"],"dc:title":["Primary Ciliary Dyskinesia: An Epidemiological Exploration. Furthering our understanding of the burden of disease in PCD"],"dc:type":["Thesis"]},"updated_at":"2026-07-27T21:28:13Z"}