ORCID Profile
0000-0003-0491-4048
Current Organisations
Rhodes University
,
Diginex
,
University of South Australia
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Publisher: Elsevier BV
Date: 08-2010
Publisher: Springer Science and Business Media LLC
Date: 19-04-2021
DOI: 10.1186/S13073-021-00870-6
Abstract: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes ( HNRNPK , HNRNPU , HNRNPH1 , HNRNPH2 , and HNRNPR ) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs ( HNRNPU and SYNCRIP ). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands ( n = 188–221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs. Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP -related disorders, expands the phenotypes of known HNRNP -related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.
Publisher: South African Institute of Computer Scientists and Information Technologists
Date: 28-07-2013
Abstract: This paper presents the results of a case study aimed at identifying the skills that lecturers in a computer science department value in an undergraduate student, and to determine if there is a departmental construction of an ‘ideal’ student. To answer this question, a case study was undertaken in the Computer Science Department at a small university in South Africa. Participants were asked to complete a questionnaire and to take part in an interview to solicit feedback on their notion of an ‘ideal’ student. This study found that participants valued the following skills within undergraduate student: creativity computer playfulness planning, analytical or abstract thinking, and problem solving introverted personality engagement in class working independently self efficacy and responsibility. It also found a strong correlation between participant’s own performance as a student and their understanding of an ‘ideal’ student. These results are then discussed within the context of South African Higher Education, where student populations are becoming more erse. The paper calls for academics to reflect on their own teaching, and the relevance of their practices to the present conditions of transformation in Higher Education in South Africa.
Publisher: ACM Press
Date: 2006
Publisher: Informa UK Limited
Date: 17-05-2019
Publisher: Elsevier BV
Date: 03-2022
Publisher: ACM
Date: 06-10-2008
Publisher: ACM
Date: 02-10-2007
Publisher: IEEE
Date: 2003
Publisher: ACM
Date: 25-01-2006
Publisher: IGI Global
Date: 2010
DOI: 10.4018/978-1-61520-997-2.CH003
Abstract: Rural development and poverty alleviation are a priority for development in South Africa. Information and knowledge are key strategic resources for social and economic development, as they empower rural communities with the ability to expand their choices through knowing what works best in their communities. Information Communication Technologies (ICTs) act as tools which enable existing rural development activities. The Siyakhula living lab (SLL) aims to develop and field-test a distributed, multifunctional community communication platform, using localization through innovation, to deploy in marginalized communities in South Africa. The project exists as research collaboration between the Telkom Centres of Excellence at the University of Fort Hare and Rhodes University. Its current pilot operates in the Mbashe municipal area, which is a deep rural area located along the wild coast of the Eastern Cape province of South Africa. The Dwesa-Cweba Nature Reserve acts as a chief asset in the community, which contributes to tourism development. However, the community is currently not actively involved in tourism development but potential exists in local arts, crafts, and authentic heritage tourism. Therefore, the SLL aspires to empower the community with appropriate communication technology skills to actively support tourism development and other complementary development activities, such as, education. The lessons learned and applied in the project’s current pilot stage identify techniques and approaches that aim to promote the effectiveness and sustainability of the ICT project in a rural context. These approaches and techniques are viewed and described from social-cultural, institutional, economic, and technological perspectives.
Publisher: Springer Berlin Heidelberg
Date: 2012
Publisher: Springer Science and Business Media LLC
Date: 03-2011
Publisher: ACM
Date: 10-2012
Publisher: ACM
Date: 03-10-2011
Publisher: ACM
Date: 10-2012
Publisher: Springer Berlin Heidelberg
Date: 2004
Publisher: IEEE
Date: 05-2015
Publisher: ACM
Date: 12-10-2009
Publisher: Informa UK Limited
Date: 10-09-2020
Publisher: IEEE
Date: 05-2017
Publisher: SAGE Publications
Date: 07-2022
Publisher: Springer Berlin Heidelberg
Date: 2012
Publisher: IEEE
Date: 05-2015
Publisher: Elsevier BV
Date: 11-2008
Publisher: IGI Global
Date: 2012
DOI: 10.4018/978-1-4666-0882-5.CH311
Abstract: Rural development and poverty alleviation are a priority for development in South Africa. Information and knowledge are key strategic resources for social and economic development, as they empower rural communities with the ability to expand their choices through knowing what works best in their communities. Information Communication Technologies (ICTs) act as tools which enable existing rural development activities. The Siyakhula living lab (SLL) aims to develop and field-test a distributed, multifunctional community communication platform, using localization through innovation, to deploy in marginalized communities in South Africa. The project exists as research collaboration between the Telkom Centres of Excellence at the University of Fort Hare and Rhodes University. Its current pilot operates in the Mbashe municipal area, which is a deep rural area located along the wild coast of the Eastern Cape province of South Africa. The Dwesa-Cweba Nature Reserve acts as a chief asset in the community, which contributes to tourism development. However, the community is currently not actively involved in tourism development but potential exists in local arts, crafts, and authentic heritage tourism. Therefore, the SLL aspires to empower the community with appropriate communication technology skills to actively support tourism development and other complementary development activities, such as, education. The lessons learned and applied in the project’s current pilot stage identify techniques and approaches that aim to promote the effectiveness and sustainability of the ICT project in a rural context. These approaches and techniques are viewed and described from social-cultural, institutional, economic, and technological perspectives.
Publisher: ACM
Date: 02-09-2004
Publisher: Springer Science and Business Media LLC
Date: 20-05-2011
Publisher: ACM
Date: 12-10-2009
Publisher: IEEE
Date: 05-2016
Publisher: Springer International Publishing
Date: 2019
Publisher: Informa UK Limited
Date: 12-07-2021
Publisher: Wiley
Date: 21-04-2008
Publisher: Elsevier BV
Date: 11-2010
Publisher: Springer US
Date: 2008
Publisher: IEEE
Date: 05-2014
Publisher: IEEE
Date: 05-2017
Publisher: Emerald
Date: 28-11-2019
Abstract: This paper aims to explore how stable employment, company culture and tailored health, digital and core skills training provided by a social enterprise (SE) in the Philippines affect survivors of exploitation. Research shows survivors experience adverse social conditions and physical and mental health outcomes caused by their exploitative experience. Stable, decent employment has been identified as critical to their recovery and reintegration. This paper discusses the SE’s impact on the employees’ physical, mental and social health and behaviour. Based on our findings, the authors discuss the contribution of SE in improving health outcomes and providing health services and conclude that SEs should not replace but complement public health government programmes. This paper uses mixed methods, presenting data from a longitudinal survey (household income, mental health and social well-being) and a follow-up qualitative study, which uses in-depth interviews and participatory videos to explore survey findings. The quantitative analysis demonstrates positive, but gradual, changes in sexual and reproductive health behaviour personal empowerment and trauma, anxiety and depressive symptoms. The qualitative findings show how improvements in executive functioning, self-regulation and self-esteem occur incrementally over time. As their self-efficacy improves, employees need to avoid being overly dependent on the SE, to support their autonomy therefore, access to complementary public health services is fundamental. This paper focusses, to the authors’ knowledge, on a unique SE, which hires survivors of exploitation, without losing their competitiveness in the market.
Publisher: AOSIS
Date: 31-12-2015
DOI: 10.4102/TD.V11I3.65
Abstract: This paper presents a critical discussion on the current use of technology and participation in local government. It discusses the rise in popularity of mobile devices, and how they have been used in ICT for development. The paper describes the results of a baseline study undertaken in a city within Makana Municipality in the Eastern Cape of South Africa, to empirically investigate how residents are currently using mobile phones and participating with local government around the area of service delivery. The findings illustrate the current state of mobile phone usage and capabilities, and the potential for using the mobile platform to increase participation in local government in South Africa. The paper also can be used to inform and guide project stakeholders on how best to implement m-participation strategies.
Publisher: Springer International Publishing
Date: 2020
No related grants have been discovered for Hannah Thinyane.