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Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin
Dissertation (MSc (Medical Immunology))--University of Pretoria, 2025.
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| Format: | Thesis |
| Language: | English |
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University of Pretoria
2025
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| _version_ | 1867613614037270528 |
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| access_status_str | Open Access |
| author2 | Pepper, Michael Sean |
| author_browse | Pepper, Michael Sean |
| author_facet | Pepper, Michael Sean |
| collection | Thesis |
| dc_rights_str_mv | © 2023 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Dissertation (MSc (Medical Immunology))--University of Pretoria, 2025. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/100466 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:38:56.612Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/100466 Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin Pepper, Michael Sean u15280854@tuks.co.za Joubert, Fourie Mellet, Juanita Ryder, Megan A. (Ashley) Holborn, Megan A. (Ashley) Sustainable Development Goals (SDGs) UCTD Hypoxic ischemic encephalopathy Genetic variants Neurodevelopmental disease Neonatal health Genetics Dissertation (MSc (Medical Immunology))--University of Pretoria, 2025. Neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy (NESHIE) is a form of brain injury occurring in neonates due to a shortage of blood flow and consequential oxygen delivery to the brain around the time of birth. Cases of NESHIE often result in severe outcomes including permanent neurological disability or death. NESHIE is a significant health issue in Africa with incidences of up to 35.2 cases per 1000 live births reported. Despite the high incidence of NESHIE in Africa, research on the genetics of NESHIE has primarily focused on individuals of European, Asian and Latin American descent. To date, no African-specific genetic studies on NESHIE have been published. To lay a foundation for future African-specific genetic case-control studies on NESHIE, this study aimed to determine the allele frequencies and predicted effects of variants within NESHIE genes of interest in the general African population. As a preliminary step, genetic findings on NESHIE from other global populations were catalogued and used to prioritise genes for further study based on their strength of association with NESHIE and involvement in diseases with similar phenotypes. Following the selection of genes of interest, variants within these genes were identified using African-specific sequencing data from the 1000 Genomes Project and the Human Genome Diversity Project. The frequencies and effects of these variants were then analysed to (i) assess the comparability of genetic findings between African populations and European, Asian and Latin American populations, and (ii) identify variants in the genes of interest present in African populations that may warrant further research on their potential involvement in the genetics of NESHIE due to their known or predicted association with disease. The findings from this study, along with future African-specific research on the genetics of NESHIE, will help determine whether genetic factors contribute to the high incidence of NESHIE in African populations. If such genetic factors are identified, these factors could aid healthcare workers in predicting which neonates are at risk of severe outcomes and facilitate the development of personalised treatment plans. Bill and Melinda Gates Foundation South African Medical Research Council Immunology MSc (Medical Immunology) Unrestricted Faculty of Health Sciences SDG-03: Good health and well-being 2025-02-03T20:26:08Z 2025-02-03T20:26:08Z 2025-04 2025-01 Dissertation * A2025 http://hdl.handle.net/2263/100466 10.25403/UPresearchdata.28280273 en © 2023 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | Sustainable Development Goals (SDGs) UCTD Hypoxic ischemic encephalopathy Genetic variants Neurodevelopmental disease Neonatal health Genetics Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin |
| title | Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin |
| title_full | Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin |
| title_fullStr | Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin |
| title_full_unstemmed | Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin |
| title_short | Identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of African origin |
| title_sort | identification of allelic variants implicated in neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy and consequential cerebral palsy in individuals of african origin |
| topic | Sustainable Development Goals (SDGs) UCTD Hypoxic ischemic encephalopathy Genetic variants Neurodevelopmental disease Neonatal health Genetics |
| url | http://hdl.handle.net/2263/100466 |