A5015975470- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Epigenetics and DNA Methylation
- Biomedical Text Mining and Ontologies
- Blood groups and transfusion
- Genomics and Rare Diseases
- Pancreatitis Pathology and Treatment
- Tuberculosis Research and Epidemiology
- Oral Health Pathology and Treatment
- Folate and B Vitamins Research
- Genetics, Bioinformatics, and Biomedical Research
- Chronic Kidney Disease and Diabetes
- Mycobacterium research and diagnosis
- Telemedicine and Telehealth Implementation
- Genetic Associations and Epidemiology
- Chronic Lymphocytic Leukemia Research
- Drug Transport and Resistance Mechanisms
- Prenatal Screening and Diagnostics
- MicroRNA in disease regulation
- Hearing, Cochlea, Tinnitus, Genetics
- Gene expression and cancer classification
- Cancer-related molecular mechanisms research
- Parathyroid Disorders and Treatments
- Biotechnology and Related Fields
- Mobile Health and mHealth Applications
University of Cape Town
2016-2025
University of the Witwatersrand
2022-2023
National Health Laboratory Service
2022-2023
Summary We aimed to investigate the clinical and genetic predictors of painful vaso‐occlusive crises ( VOC ) in sickle cell disease SCD Cameroon. Socio‐demographics, variables/events haematological indices were acquired. Genotyping was performed for 40 variants 17 pain‐related genes, three fetal haemoglobin (HbF)‐promoting loci, two kidney dysfunctions‐related genes , HBA 1 / 2 genes. Statistical models using regression frameworks R ® . A total 436 hydoxycarbamide‐ opioid‐naïve patients...
Our study aimed to investigate GJB2 (connexin 26) and GJB6 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well the environmental causes of HI in Ghana. Medical reports 1,104 students attending schools for deaf were analyzed. Families segregating HI, isolated cases putative genetic origin recruited. DNA was extracted from peripheral blood followed by Sanger sequencing entire coding region GJB2. Multiplex PCR used analyze prevalence GJB6-D3S1830 deletion....
Known fetal haemoglobin (HbF)-modulating loci explain 10–24% variation of HbF level in Africans with Sickle Cell Disease (SCD), compared to 50% among Europeans. Here, we report fourteen candidate from a genome-wide association study (GWAS) patients SCD Cameroon, Tanzania, and the United States America. We present results cell-based experiments for FLT1 candidate, demonstrating expression early haematopoiesis possible involvement hypoxia associated induction. Our employed genotyping arrays...
Hydroxyurea (HU) is clinically beneficial in Sickle Cell Disease (SCD) through foetal haemoglobin (HbF) induction; however, the mechanism of HU not yet fully elucidated. Selected miRNAs have been associated with HU-induced HbF production. We investigated differential global miRNA expression peripheral blood adult SCD patients from Congo, living South Africa. found 22 798 evaluated that were differentially expressed under treatment, majority (13/22) being functionally HbF-regulatory genes,...
Abstract Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges comprehensive management collaborative research on this are compounded by complex molecular clinical phenotypes SCD, environmental psychosocial factors, limited therapeutic options ambiguous terminology. This terminology has hampered integration...
Recent studies in the human immunodeficiency virus (HIV)-infected population have suggested that there are genetic predispositions to development of chronic kidney disease (CKD) this context. We investigated association polymorphisms genes encoding apolipoprotein L1 (APOL1), transforming growth factor β1 (TGF-β1; a profibrotic cytokine), and heme oxygenase 1 (HMOX1) with prevalent CKD among adults without HIV infection.Case-control study.West African including 217 HIV-infected patients...
Hearing impairment (HI) is a common sensory disorder that defined as the partial or complete inability to detect sound in one both ears. This diverse pathology associated with myriad of phenotypic expressions and can be non-syndromic syndromic. HI caused by various genetic, environmental, and/or unknown factors. Some ontologies capture some forms, phenotypes, syndromes, but there no comprehensive knowledge portal which includes aspects specific disease state. hampers inter-study...
Partial carrier-resistance to Plasmodium falciparum malaria conferred by the sickle cell ( HbS ) mutation has resulted in local amplification and positive selection of disease (SCD) malaria-endemic regions particularly sub-Saharan Africa (SSA). The present study investigated β -globin gene haplotypes, selected malaria-associated variants among three cohorts Bantu-speaking individuals from Malawi, Zimbabwe South compared with reports data others SSA populations. suggest a south-ward frequency...
This study describes the roles of laboratory information management systems (LIMS) in multi-site genetics studies Africa. We used HiGeneS Africa project as a case study. The participants were recruited six African countries between 2019 to 2021. Baobab LIMS, server–client-based system (an African-led innovation) was for coordination biospecimen. development phase LIMS showcased team formation, data collection, biospecimen and shipment strategies. implementation registration, processing,...
Sickle cell anemia (SCA) is caused by a single point variation in the β-globin gene ( HBB ): c.20A> T (p.Glu7Val), homozygous state. SCA characterized sickling of red blood cells small vessels which leads to range multiorgan complications, including kidney dysfunction. This case-control study aims at identifying sickle nephropathy biomarkers group patients living with from Senegal. A total 163 and 177 ethnic matched controls were investigated. Biological phenotyping included evaluation...
Despite advancements made toward diagnostics, tuberculosis caused by Mycobacterium africanum (Maf) and sensu stricto (Mtbss) remains a major public health issue. Human host factors are key players in (TB) outcomes treatment. Research is required to probe the interplay between bacterial genomes. Here, we explored association selected human/host genomic variants TB disease Ghana. Paired genotype datum infecting isolate information were analyzed for associations using multinomial logistic...
Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. Over 300,000 newborns are diagnosed with SCD each year globally, an increasing trend. The sickle ontology (SCDO) comprehensive multidisciplinary knowledge portal. SCDO was collaboratively developed by working group, which includes experts in and data standards from across globe. This expert review presents highlights lessons learned fourth workshop that marked beginning applications toward health...
Renal dysfunctions are associated with increased morbidity and mortality in sickle cell disease (SCD). Early detection subsequent management of SCD patients at risk for renal failure essential, however, predictors that can identify developing dysfunction not fully understood. In this study, we have investigated the association 31 known kidney dysfunctions-related variants detected African Americans from multi-ethnic genome wide studies (GWAS) meta-analysis, to kidney-dysfunctions a group 413...
Increased blood pressure (BP) has been associated with higher risk of stroke and mortality in Sickle Cell Disease (SCD). We investigated factors Relative Systemic Hypertension (RSH) or systemic hypertension SCD patients Cameroon. Using R, Multivariate multinomial logistic regression modeling was used to examine the effects demographic, anthropometric, clinical, laboratory determine factors. A total 815 individuals SCD, including 380 (46.6%) males were analyzed. At baseline, median age...
Abstract The development of paradoxical tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS) and its prevention using prednisone may potentially be mediated by the LTA4H genotype. We assessed this hypothesis in a clinical trial evaluating to prevent TB-IRIS. did not find an association between genotype TB-IRIS incidence or efficacy.
Chronic kidney disease (CKD) in the human immunodeficiency virus (HIV) population has become an increasingly important cause of morbidity and mortality especially Sub-Saharan Africa (SSA), with suggestion certain genetic risks. We investigated association polymorphisms APOL1 transforming growth factor-β1 (TGF-β1), renal pro-fibrotic cytokine, CKD occurrence extreme southern Nigeria.
La détermination du Débit de Filtration Glomérulaire (DFG) est importante chez les drépanocytaires fait qu’ils constituent un groupe patients lesquels des atteintes rénales sont fréquemment décrites notamment l’hyperfiltration glomérulaire. Dès lors, à une époque où calculateurs en ligne proposent simultanément différentes formules DFG, il serait important d’évaluer au sein d’une population noire africaine drépanocytaire l’équivalence entre ces qui ont été développées et validées sur...
Background: There is evidence that the microbiome involved in numerous human systems’ pathobiology, however, its role sickle cell disease (SCD) remains elusive. Methodology: An extensive systematic search was conducted by applying PRISMA guidelines (2009) and using three databases (Pubmed, Web of Science, Scopus). The keywords were used separately a combination following: “Microbiota” AND “Anemia” OR “Sickle Cell”. Articles included confined to full-length articles written English focused on...