Prof Amanda Krause

Amanda Krause is a South African medical geneticist and academic whose work focuses on inherited neurological and rare genetic disorders in African populations. Affiliated with leading South African research institutions, she has played a central role in advancing genomic medicine within resource-constrained healthcare settings, integrating clinical insight with molecular diagnostics to improve patient care and genetic counseling.

Her research prominently addresses Huntington disease-like 2, exploring its molecular origins, clinical variability, and shared mechanisms with Huntington disease. Through biomarker studies, haplotype analyses, and detailed phenotyping, she has helped clarify the African origin and broader continental distribution of HDL2, contributing substantially to understanding trinucleotide repeat disorders and neurodegeneration.

Krause’s broader portfolio spans founder mutations such as TP53 variants, STAC3-related myopathy, neurofibromatosis type 1, and Cornelia de Lange syndrome. She also develops cost-effective genomic testing strategies and examines ethical aspects of returning genetic findings. Collectively, her work strengthens diagnostic capacity, expands African genomic data, and informs equitable implementation of precision medicine.