Field-deployable diagnostics for APOL1 genotyping and kidney function assessment
Supervisors:
Prof Annette MacLeod, School of Biodiversity, One Health & Veterinary Medicine
Prof Julien Reboud, James Watt School of Engineering
Summary:
Chronic kidney disease (CKD) is a significant global health challenge, with particularly high prevalence among people of recent sub-Saharan African ancestry. A major genetic contributor is variation in the human APOL1 gene (known as G1 and G2). These variants likely rose to high frequency because they protect against the parasitic disease human African trypanosomiasis. Individuals who inherit two risk alleles (genotypes G1/G1, G1/G2, or G2/G2) face a significantly increased risk of CKD. Around 15% of Black people in the UK and millions globally carry these high-risk genotypes, however the vast majority do not know it.
APOL1 tests and kidney function screening are expensive and only available in specialist laboratories and often inaccessible to low-resource settings. This creates a major diagnostic gap, with late or missed diagnoses particularly common in sub-Saharan Africa, where high-risk genotypes are found most frequently.
This PhD will develop a low-cost, field-deployable diagnostic based on novel isothermal genotyping DNA amplification strategies, capable of simultaneously measuring kidney function biomarkers from a finger-prick of blood. The project combines molecular biology, bioengineering, and clinical research, with validation studies in both the UK and sub-Saharan Africa. Training will cover diagnostic development, biomarker analysis, global health, and translational research, providing a strong interdisciplinary skillset for a career at the interface of precision medicine and health equity.