Human genetics and genomics as a unifying factor for harmony and progress in Africa: a report from the 12 African Society of Human Genetics meeting in Bamako, Mali.

Since its inception in 2003, the African Society of Human Genetics (AfSHG) has been central to the promotion of genetics research on the continent, and facilitated the networking of African researchers within Africa and abroad, thereby significantly contributing to the career development of African geneticists. The continuation of these accomplishments was stimulated by the 12 international conference of AfSHG held jointly with the 1 Congress of the Malian Society of Human Genetics (MSHG) in Bamako, Mali from September 18 to 21 2019. The main theme of the conference was "Human Genetics and Genomics as a Unifying Factor for Harmony and Progress in Africa".

Impact of nurse education prior to and during COVID-19 on nursing students' preparedness for clinical placement: A qualitative study.

Introduction: Nursing students internationally entered challenging clinical placements during COVID-19. Lessons learnt could inform nurse education planning, particularly in preparation to implement future workforce plans.

Aim: This study aimed to explore the impact of COVID-19 on nursing students undertaking clinical placements across the UK, particularly the extent to which nursing education prior to and during COVID-19 had prepared them for placements, and to distil key messages for future nursing education.

Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.

Importance: Primary open-angle glaucoma (POAG) polygenic risk scores (PRSs) continue to be evaluated in primarily European-ancestry populations despite higher prevalence and worse outcomes in African-ancestry populations.

Objective: To evaluate how established POAG PRSs perform in African-ancestry samples from the Genetics in Glaucoma Patients of African Descent (GIGA), Genetics of Glaucoma in Individuals of African Descent (GGLAD), and Million Veteran Program (MVP) datasets and compare these with European-ancestry samples.

Design, Setting, And Participants: This was a multicenter, cross-sectional study of POAG cases and controls from Tanzania, South Africa, Nigeria, Ghana, and the US.

Towards Human Sensory Augmentation: A Cognitive Neuroscience Framework for Evaluating Integration of New Signals within Perception, Brain Representations, and Subjective Experience.

New wearable devices and technologies provide unprecedented scope to augment or substitute human perceptual abilities. However, the flexibility to reorganize brain processing to use novel sensory signals during early sensitive periods in infancy is much less evident at later ages, making integration of new signals into adults' perception a significant challenge. We believe that an approach informed by cognitive neuroscience is crucial for maximizing the true potential of new sensory technologies.

Remote monitoring to improve low adherence in non-invasive ventilation: a protocol for a randomised controlled clinical trial (READ-NIV trial).

Background: Obstructive sleep apnoea (OSA) is the most common sleep-related breathing disorder. Non-invasive ventilation (NIV) is essential for managing hypercapnic respiratory failure in patients with obesity hypoventilation syndrome (OHS) and those with co-existing OSA, where continuous positive airway pressure (CPAP) alone is insufficient. However, adherence to NIV can be challenging, with substantial non-compliance occurring due to factors such as discomfort and phobia.

A GWAS of ACE Inhibitor-Induced Angioedema in a South African Population.

Background: Angiotensin-converting enzyme inhibitor-induced angioedema (AE-ACEI) is a life-threatening adverse event and, globally, the commonest cause of emergency presentations with angioedema. Several large genome-wide association studies (GWAS) have found genomic associations with AE-ACEI. However, despite African Americans having a 5-fold increased risk of AE-ACEI, there are no published GWAS from Africa.

Mpox Epidemiology and Vaccine Effectiveness, England, 2023.

Reported mpox cases in England continued at a low but steady frequency during 2023. Of 137 cases reported in 2023, approximately half were acquired overseas and half were in vaccinated persons. Estimated effectiveness of 2-dose vaccine was 80%, and no vaccinated mpox patient was hospitalized.

Computation of Socio-Economic Status in the AWI-Gen Project.

Socio-economic status of participants in many public health, epidemiological, and genome-wide association studies is an important trait of interest. It is often used in these studies as a measure of direct interest or as a covariate. The Africa Wits INDEPTH Partnership for Genomic and Environmental Research (AWI-Gen) explores genomic and environmental factors in non-communicable diseases, particularly cardio-metabolic disease.

Ancestry-aligned polygenic scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations.

Background: Cardiovascular diseases (CVD) are a major health concern in Africa. Improved identification and treatment of high-risk individuals can reduce adverse health outcomes. Current CVD risk calculators are largely unvalidated in African populations and overlook genetic factors.

Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations.

Epigenetic modifications influence gene expression levels, impact organismal traits, and play a role in the development of diseases. Therefore, variants in genes involved in epigenetic processes are likely to be important in disease susceptibility, and the frequency of variants may vary between populations with African and European ancestries. Here, we analyse an integrated dataset to define the frequencies, associated traits, and functional impact of epigenetic gene variants among individuals of African and European ancestry represented in the UK Biobank.

The Value Proposition of Coordinated Population Cohorts Across Africa.

Building longitudinal population cohorts in Africa for coordinated research and surveillance can influence the setting of national health priorities, lead to the introduction of appropriate interventions, and provide evidence for targeted treatment, leading to better health across the continent. However, compared to cohorts from the global north, longitudinal continental African population cohorts remain scarce, are relatively small in size, and lack data complexity. As infections and noncommunicable diseases disproportionately affect Africa's approximately 1.

Persistent elevation in incidence of pneumonia in children in England, 2023/24.

Since November 2023, the absolute number of attendances at emergency departments for pneumonia among children aged 5-14 years in England have been above expected levels for the time of year. This increased signal peaked during March 2024 but then persisted into early summer 2024 despite decreases in prevalence of seasonal respiratory pathogens. Record linkage between emergency department and laboratory databases points to this unusual activity being driven largely by .

An assessment of the genomic structural variation landscape in Sub-Saharan African populations.

Structural variants are responsible for a large part of genomic variation between individuals and play a role in both common and rare diseases. Databases cataloguing structural variants notably do not represent the full spectrum of global diversity, particularly missing information from most African populations. To address this representation gap, we analysed 1,091 high-coverage African genomes, 545 of which are public data sets, and 546 which have been analysed for structural variants for the first time.

The association of menopause with cardiometabolic disease risk factors in women living with and without HIV in sub-Saharan Africa: Results from the AWI-Gen 1 study.

Background: Menopause and HIV are associated with cardiometabolic disease. In sub-Saharan Africa there is a growing population of midlife women living with HIV and a high prevalence of cardiometabolic disease.

Objectives: The aim of this study was to determine whether menopause and HIV were associated with cardiometabolic disease risk factors in a population of midlife sub-Saharan African women.

Same-sex sexual behaviour among mammals is widely observed, yet seldomly reported: Evidence from an online expert survey.

Same-sex sexual behaviour (SSSB) occurs in most animal clades, but published reports are largely concentrated in a few taxa. Thus, there remains a paucity of published reports for most mammalian species. We conducted a cross-sectional expert survey to better understand the underlying reasons for the lack of publications on this topic.