22 January 2019
Genome-Wide and Epigenome-Wide Association Studies (GWAS and EWAS) provide a powerful tool for exploring how genes and epigenes that are associated with disease outcomes exert their effects.
Modern science is increasingly relying on large collaborative ventures, and with good reason. The pooling of data, resources and brain power can create a whole that is much greater than the sum of its individual parts. Large studies generate much greater statistical power and certainty in outcomes. Genome-Wide Association Studies (GWAS) are leading the field and now frequently involve sample sizes of hundreds of thousands and even millions of subjects.
With coordinated inputs from the MRC and Wellcome Trust, the UK has invested in several large-scale initiatives such as the UK Biobank and 100,000 Genomes projects. Africa lags behind, but the Human Hereditary and Health in Africa (H3A) initiative, and its biobanking arm (B3A), will help to rectify this imbalance.
The Keneba Field Station hosts the smallest of MRC Unit The Gambia at LSHTM’s three Demographic and Health Surveillance Surveys (DHSS), covering a population of about 15,000 people in 36 villages. The Keneba BioBank was created years ago as an active biobank for continuous monitoring with donated blood, DNA and living samples. The biobank now contains samples and data from over 12,500 participants. The Keneba BioBank has already been used in many studies, and had been awarded MRC Global Challenges Research Fund (GCRF) seed funding under a call branded ‘Confidence in Nutrition’. We are using this funding to build a partnership with researchers in Bristol who run the world-renowned Avon Longitudinal Study of Parents and Children (ALSPAC).
ALSPAC is a remarkably productive longitudinal birth cohort study. Members of the ALSPAC team visited Keneba in May as part of a series of reciprocal working visits with the intention of ‘cloning and adapting’ ALSPAC best practices as we develop WABR. In addition to supporting in-house research by MRC Unit The Gambia at LSHTM scientists, WABR is being created with the explicit goal of encouraging access by researchers across Africa and beyond.
A dedicated website will be developed to promote the resource with the aim of emulating ALSPAC’s phenomenal track record. It will be a long time before personalised medical interventions become a reality in rural Africa but stratified approaches are a real possibility and can be informed by WABR.
Examples of on-going studies using the Keneba Biobank:
- PhD-student Momodou Wuri Jallow is examining how Transmembrane serine protease 6 (TMPRSS6) mutations affect hepcidin expression.
- PhD-student Fatou Joof is testing how ATPase plasma membrane Ca2+ transporting 4 (ATP2B4) variants affect plasmodium growth in red blood cells.
- Dr Modou Jobe is testing whether high-dose riboflavin reduces blood pressure and whether a common Methylenetetrahydrofolate reductase (MTHFR) variant affects response.