Dr. Anneline Lochan

Anneline Lochan is a medical geneticist and researcher whose work centers on inherited disorders within Southern African populations. Her scholarship highlights the clinical and molecular characterization of rare genetic conditions, with a strong emphasis on improving diagnostic pathways and genetic counseling in underrepresented communities.

Her research explores congenital hypotonia linked to STAC3 variants, expanding understanding of myopathies of African origin and their global migration patterns. Additional contributions address DNA repair disorders such as Fanconi anaemia and Cockayne syndrome, offering insights into genotype–phenotype correlations and pathogenic mechanisms in BRCA2 and ERCC6-related disease.

Lochan has also examined genetic risk factors in haemophilia A and engaged with ethical and policy considerations surrounding direct-to-consumer genomic testing in South Africa. Together, her publications reflect expertise in clinical genomics, population genetics, and the responsible integration of advanced sequencing technologies into healthcare practice.