Human Genetics

The Department of Human Genetics is part of the School of Pathology in the Faculty of Health Sciences at the University of the Witwatersrand, Johannesburg. It is a department within the school, alongside the other departments and divisions that make up pathology at Wits.

Its research strengths, as shown by its publications, lie in hereditary cancer genetics, rare Mendelian disorders, neurogenetics and congenital conditions. Work in these areas includes studies of BRCA-associated breast cancer, STAC3 myopathy, albinism, anterior segment eye disorders and chromosomal syndromes, with an emphasis on molecular diagnosis and variants specific to African populations.

Further themes include psychiatric epigenetics, genomic data governance and biomarker development, together with environmental health topics such as heat-related maternal outcomes. The research is focused on South Africa and on African genomic diversity, including population-specific variant discovery and ethical frameworks for data access.