Ms. Mabyalwa Mudau

Mabyalwa Mudau is a South African researcher in human genetics whose work focuses on the molecular diagnosis of rare inherited disorders in African populations. Affiliated with academic and public health genetics initiatives in South Africa, Mudau contributes to improving access to genomic testing within resource-constrained healthcare systems, with an emphasis on clinically actionable diagnostics.

Research centers on applying next-generation sequencing, targeted gene panels, and copy number analysis to conditions such as Neurofibromatosis type 1, Cornelia de Lange syndrome, RASopathies, and other syndromic disorders. This work provides some of the first molecular characterizations of these conditions in Southern African cohorts, highlighting population-specific features and expanding representation in global genomic data.

Additional contributions include studies on aneuploidy detection using QF-PCR and the identification of founder mutations in FKRP-related muscular dystrophy among Afrikaner patients. Across publications, a consistent strength lies in designing cost-effective, feasible diagnostic strategies that translate genomic technologies into practical tools for equitable patient care.