Jantina de Vries
University of Cape Town
Publications 54
#1Aminu YakubuH-Index: 6
Last.Jantina de VriesH-Index: 19
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Development of biobanks in Africa raises ethical questions related to particular features of African cancer research contexts
#1Karen Kengne KamgaH-Index: 3
#2Séraphin NguefackH-Index: 6
Last.Ambroise WonkamH-Index: 20
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Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of...
#1Ciara Staunton (Middlesex University)H-Index: 7
#2Jantina de Vries (UCT: University of Cape Town)H-Index: 19
Genomic biobank research has experienced exponential growth in recent years. It represents a real opportunity to remedy global health inequity that has seen limited investment in diseases affecting populations from low and middle income countries (LMICs). Previous research in Africa continent was limited to so-called parachute research whereby samples were taken from local populations for use in high income countries (HICs) with no local oversight or use of the sample. These exploitative practic...
#1Ambroise Wonkam (UCT: University of Cape Town)H-Index: 20
#2Jantina de Vries (UCT: University of Cape Town)H-Index: 19
Ancestral and geographical issues underlie the need to develop Africa-specific guidelines for the return of genomics research results in Africa. In this Commentary, we outline the challenges that will inform policies and practices in the future.
#1Paulina Tindana (College of Health Sciences, Bahrain)
#2Aminu Yakubu (Federal Ministry of Health)H-Index: 6
Last.Jantina de Vries (UCT: University of Cape Town)H-Index: 19
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In the past decade, there has been an increase in genomic research and biobanking activities in Africa. Research initiatives such as the Human Heredity and Health in Africa (H3Africa) Consortium are contributing to the development of scientific capacity and infrastructure to support these studies on the continent. Despite this growth, genomic research and biobanking have raised important ethical challenges for key research stakeholders, including members of research ethics committees. One of the...
#1Marlyn C. Faure (UCT: University of Cape Town)
#2Olivia P. Matshabane (UCT: University of Cape Town)
Last.Jantina de Vries (UCT: University of Cape Town)H-Index: 19
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Abstract Introduction A common concern in African genomic research is that such work may cause, or increase, stigma associated with particular diseases or population groups. While there is some evidence suggesting that genetic attribution of disease might impact stigma, there exists no evidence for the situation in African populations. With increasing genomic research in African populations, questions about the effect of genetic attribution on disease-related stigma are salient for stakeholders ...
#1Nchangwi Syntia Munung (UCT: University of Cape Town)H-Index: 3
#2Victoria Nembaware (UCT: University of Cape Town)H-Index: 6
Last.Ambroise Wonkam (UCT: University of Cape Town)H-Index: 20
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Abstract Sickle cell disease (SCD) is one of the most prevalent genetic conditions in sub-Saharan Africa. It is a chronic, lifelong disease often characterised by severe pain. However, SCD has received little investment in terms of health research, though there is currently a growing pool of SCD data from health and research facilities in different countries. To facilitate research on SCD in Africa, the SickleInAfrica consortium established a SickleInAfrica registry. The registry stores a system...
#1Michael S. Pepper (South African Medical Research Council)H-Index: 72
#2Collet Dandara (UCT: University of Cape Town)H-Index: 22
Last.Wayne Towers (NWU: North-West University)H-Index: 1
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#1Christian Domilongo Bope (UNIKIN: University of Kinshasa)
#2Emile R. Chimusa (UCT: University of Cape Town)H-Index: 10
Last.Ambroise Wonkam (UCT: University of Cape Town)H-Index: 20
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Genomic medicine is set to drastically improve clinical care, globally, due to high throughput technologies, which enable speedy in silico detection and analysis of clinically relevant mutations. However, the variability in the in silico prediction methods and categorisation of functionally relevant genetic variants’ can pose specific challenges in some populations. In silico mutation, prediction tools could lead to high rates of false positive/negative results, particularly in African genomes t...