Acquaah, Vanessa Oparebea;
(2023)
Identification of biomarkers and therapeutic targets for scleroderma-associated pulmonary diseases using an integrated
multi-omics approach.
Doctoral thesis (Ph.D), UCL (University College London).
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Abstract
Systemic sclerosis (SSc), also known as scleroderma, is a rare multi-organ rheumatic autoimmune disease characterised by immune dysfunction, vasculopathy, inflammation and fibrosis of skin and internal organs. SSc has one of the highest mortality and morbidity rates among all rheumatic diseases driven by development of pulmonary complications. In particular, pulmonary arterial hypertension (SSc-PAH), pulmonary fibrosis (SSc-PF) and SSc- PF secondary to SSc-pulmonary hypertension (SSc PF-PH) have been found to be the leading causes of death among SSc patients. As such, the universal occurrence of such pulmonary complications has long been an intriguing facet of SSc. However, to date, the pathophysiology and the role of genes and pathways underlying development of these pulmonary complications are still unknown. As a result, stratification of patients is often difficult, and treatments often only relieve symptoms rather than targeting the pathology. Despite the availability of various diagnostic criteria and therapies, diagnosis and treatment of SSc-PAH and SSc-PF remain challenging. Therefore, the purpose of this thesis was to use an integrated omics approach (transcriptomics, proteomics and metabolomics) to identify biomarkers and therapeutic targets within SSc-PAH, SSc-PF, SSc patients with no lung disease (SSc-NLD) and healthy controls (HC) that would provide greater insight into genes, proteins and metabolites underlying the pathology of SSc-associated pulmonary complications. The identification of biomarkers and treatment targets will enhance patient stratification, facilitate early detection, improve patient prognosis, and offer new possibilities for creating more effective therapies.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | Ph.D |
| Title: | Identification of biomarkers and therapeutic targets for scleroderma-associated pulmonary diseases using an integrated multi-omics approach |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2022. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10174938 |
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