A5060480689- Hearing, Cochlea, Tinnitus, Genetics
- Connexins and lens biology
- HIV/AIDS drug development and treatment
- Cancer-related molecular mechanisms research
- Hearing Loss and Rehabilitation
- Nicotinic Acetylcholine Receptors Study
- Pharmaceutical studies and practices
- Pharmacological Effects and Toxicity Studies
- Drug-Induced Adverse Reactions
- Noise Effects and Management
- Epilepsy research and treatment
- RNA regulation and disease
- Dialysis and Renal Disease Management
- interferon and immune responses
- Ear Surgery and Otitis Media
- Genetics and Neurodevelopmental Disorders
- Neuropeptides and Animal Physiology
- HIV/AIDS Research and Interventions
- Vascular Procedures and Complications
- Long-Term Effects of COVID-19
- Congenital heart defects research
- SARS-CoV-2 and COVID-19 Research
- Pneumocystis jirovecii pneumonia detection and treatment
- Genetics, Bioinformatics, and Biomedical Research
- Cellular transport and secretion
University of Cape Town
2020-2025
University of Ghana
2018-2023
Korle Bu Teaching Hospital
2021
Background: Over three-quarters of the people living with hearing impairment (HI) live in low- and middle-income countries. However, Rwanda has limited data on clinical profile HI. Aim: We used community-based nationwide recruitment participants to determine etiology early-onset (<7 years age) HI Rwanda. Methods: Participants were included after examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. DNA was extracted from peripheral...
Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes three affected siblings presenting non-syndromic (NS) HL five unaffected members a consanguineous Ghanaian family. Analysis exome sequence data was performed all one family members. In-depth genetic cellular characterization were to investigate biological significance implicated variant using bioinformatic tools cell-based experimentation....
Hereditary deafness and retinal dystrophy are each genetically heterogenous clinically variable. Three small unrelated families segregating the combination of were studied by exome sequencing (ES). The proband Family 1 was found to be compound heterozygous for NM_004525.3: LRP2: c.5005A > G, p.(Asn1669Asp) c.149C p.(Thr50Ser). In 2, two sisters LRP2 variants, p.(Tyr3933Cys) an experimentally confirmed c.7715 + 3A T consensus splice-altering variant. 3, is a donor splice site variant...
We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants. DNA samples 184 family underwent whole-exome sequencing (WES). Variants found 14 known non-syndromic HI (NSHI) genes [26/51 (51.0%) families], five can underlie either syndromic or NSHI [13/51 (25.5%)], and one gene [1/51 (2.0%)]. CDH23 MYO15A contributed the most to [31.4% (16/51 families)]. For DSPP, an autosomal recessive mode of inheritance...
Abstract Background Catheter-Related Bloodstream Infections (CRBSIs) are notable complications among patients receiving maintenance haemodialysis. However, data on the prevalence of CRBSIs is lacking. This study was conducted to determine and factors associated with haemodialysis in renal unit largest tertiary hospital Ghana. Methods A hospital-based cross-sectional via central venous catheters (CVC) between September 2021 April 2022. Multivariate analysis using logistic regression used risk...
This study aimed to investigate GJB2 (MIM: 121011) and GJB6 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal. We investigated a total of 129 affected 143 unaffected individuals from 44 multiplex families by segregating autosomal recessive HI, 9 sporadic HI cases putative genetic origin, 148 control without personal or family history HI. The DNA samples were screened for coding-region GJB6-D3S1830 deletions. mean age at the medical diagnosis was 2.93...
Endothelial nitric oxide synthase (eNOS) variants have been found to be associated with several vascular disorders as well the pathogenesis of sickle cell disease (SCD) complications such vaso-occlusive crises (VOC). Studies on eNOS gene among SCD patients are rare in Ghana and other African countries. The current study aimed determine a possible association between (variable number tandem repeats intron 4 T786C) Ghanaian patients. This was cross-sectional involving 89 HbSS 46 without...
Congenital hearing impairment (HI) is genetically heterogeneous making its genetic diagnosis challenging. Investigation of novel HI genes and variants will enhance our understanding the molecular mechanisms to aid diagnosis. We performed exome sequencing analysis using DNA samples from affected members two large families Ghana Pakistan, segregating autosomal-dominant (AD) non-syndromic (NSHI). Using in silico approaches, we modeled evaluated effect likely pathogenic on protein structure...
Gap junction protein beta 2 (GJB2) (connexin 26) variants are commonly implicated in non-syndromic hearing impairment (NSHI). In Ghana, the GJB2 variant p.(Arg143Trp) is largest contributor to NSHI and has a reported prevalence of 25.9% affected multiplex families. To date, African continent, GJB2-p.(Arg143Trp) only been Ghana. Using whole-exome sequencing data from 32 individuals 16 families segregating NSHI, 38 unrelated controls with same ethnolinguistic background, we investigated date...
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,...
The COVID-19 pandemic had caused significant morbidity and mortality, with over a million deaths recorded to date. Mortality among severe-critically ill patients admitted intensive care units (ICU) has been significantly high, especially in most epicenters. Reports on the unique clinical characteristics outcomes from ICU admissions are on-going isolated studies Africa. This study was retrospective single-centre involving all polymerase chain reaction (PCR) confirmed severe acute respiratory...
Abstract Background Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. Methods This study used exome and Sanger sequencing to resolve the possible genetic cause non-syndromic HI Ghanaian family. Results We identified novel variant c.3041G > A: p.(Gly1014Glu) GREB1L (DFNA80) index case. The : had CADD score 26.5 was absent from human genomic databases such as TopMed gnomAD. In...
In Ghana, gap-junction protein β 2 (GJB2) variants account for about 25.9% of familial hearing impairment (HI) cases. The GJB2-p.Arg143Trp (NM_004004.6:c.427C>T/OMIM: 121011.0009/rs80338948) variant remains the most frequent associated with congenital HI in but has not yet been investigated clinical practice. We therefore sought to design a rapid and cost-effective test detect this variant. sampled 20 hearing-impaired 10 normal family members from 8 families segregating autosomal...
We recently showed that variants in GJB2 explained Hearing Impairment (HI) 34.1% (n = 15/44) of multiplex families Senegal. The present study aimed to use community-based nationwide recruitment determine the etiologies and clinical profiles childhood HI Participants with early onset were included after examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. investigated a total 406 participants from 295 families, recruited 13/14...
Hearing impairment (HI) is the most common neurosensory disorder globally and reported to be more prevalent in low-income countries. In high-income countries, up 50% of congenital childhood HI genetic origin. However, there limited data on from sub-Saharan African populations. this study, we investigated causes Malian populations, using whole exome sequencing. Furthermore, cDNA was transfected into HEK293T cells for localisation expression analysis a candidate gene. Twenty-four multiplex...
Objective: Ghana like most African countries, still carry the communicable disease burden. The introduction of antiretroviral drugs in has improved survival rates amongst HIV patients. According to National Guidelines for treatment Ghana, administration nevirapine, a frontline drug leads hypersensitivity reactions some This study examines clinical risk factors and specific genotypic alleles associated with nevirapine reactions. Methods: Seventy (70) naive patients, initiating...
We have previously reported CLIC5A and SLC12A2 variants in two families from Cameroon Ghana, segregating non-syndromic hearing impairment (NSHI). In this study, biological assays were performed to further functionally investigate the pathogenicity of CLIC5 [c.224T>C; p.(L75P)] SCL12A2 [c.2935G>A: p.(E979K)] variants. Ectopic expression proteins a cell model shows that compared wild-type, both overexpressed. The mutant protein appears as aggregated perinuclear bodies while wild-type was...
Abstract Background Nevirapine is used in many developing countries for the management of HIV-1 patients. Despite its usefulness, hypersensitivity reaction a common complication that accounts patients defaulting during therapy Ghana. Genetic variations drug-metabolizing enzymes have been implicated reported adverse drug reactions observed on nevirapine regimen. The study determined genotypic frequencies specific CYP2B6 and SULT1A1 variants their association with among persons living HIV...
Objective: To evaluate the prevalence and patterns of psychiatric disorders in epilepsy patients at Korle-Bu Teaching hospital, Accra, Ghana.Design: The study design was a cross-sectional surveySetting: conducted Neurology Clinic Department Medicine Therapeutics, Korle-nBu Ghana.Participants: A total one hundred sixty-six diagnosed with aged least 18 years accessing services neurology clinic participated study.Main Outcome Measure: Prevalence among using Brief Symptom Inventory.Results: mean...