Next generation sequencing approaches for novel gene discovery in South African Parkinson’s disease families
| dc.contributor.advisor | Christoffels, Alan | |
| dc.contributor.author | Pillay, Nikita Simone | |
| dc.date.accessioned | 2023-05-22T08:37:23Z | |
| dc.date.accessioned | 2024-05-17T07:57:59Z | |
| dc.date.available | 2023-05-22T08:37:23Z | |
| dc.date.available | 2024-05-17T07:57:59Z | |
| dc.date.issued | 2022 | |
| dc.description | Philosophiae Doctor - PhD | en_US |
| dc.description.abstract | In the last decade, next-generation sequencing (NGS) approaches have revolutionised the study of human genomics, particularly aiding the understanding of genetic diseases. Parkinson’s disease (PD) is a complex neurodegenerative disorder with a heterogenous genetic disposition. This disorder is clinically characterised by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta (SNpc). Subsequently, this results in a severe decrease of available dopamine that manifests as a myriad of both motor and non-motor symptoms. Several genes, including α-synuclein (SNCA), parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), PTEN induced putative kinase 1 (PINK1), and protein deglycase (DJ-1), are confirmed as disease-causing in autosomal recessive (AR), autosomal dominant (AD), early-onset (EO), and late-onset (LO) forms of the disorder. | en_US |
| dc.identifier.uri | https://hdl.handle.net/10566/15292 | |
| dc.language.iso | en | en_US |
| dc.publisher | University of the Western Cape | en_US |
| dc.rights.holder | University of the Western Cape | en_US |
| dc.subject | African Ancestry | en_US |
| dc.subject | Bioinformatics | en_US |
| dc.subject | Parkinson’s disease | en_US |
| dc.subject | Public health | en_US |
| dc.subject | Neurodegenerative disorder | en_US |
| dc.title | Next generation sequencing approaches for novel gene discovery in South African Parkinson’s disease families | en_US |