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Human Genetics Research

The Division of Human Genetics has a broad range of research interests covering many areas of human genetics; including clinical genetics, genetic counseling, monogenic disorders, non-communicable disease, microbiome and population genetics.  In addition, our research and development team has the important task of keeping abreast of the fast-paced field of genetic diagnostics and investigating new technologies that can improve the service the division delivers.

Research Projects in Human Genetics

Molecular Basis of Inherited Disorders
Investigating allele sequence diversity at the Huntington disease loci HTT and JPH3 in the South African population
  • Researchers: Ms J Levesley, Dr F Baine, Prof A Krause
  • Collaborators: Prof. D Monckton (University of Glasgow)


An assessment of genetic predisposition in idiopathic dilated cardiomyopathy (IDCM) in Johannesburg
  • Researcher: Dr Claude Bailly, Prof A Krause
  • Collaborators:  Dr N Tsabedze (Wits Division of Cardiology)


Endocrine profiling in black South African Fanconi anaemia patients, homozygous for a FANCG founder mutation
  • Researchers: Dr B Dillon, Dr C Feben, Prof A Krause and Prof D Segal
  • Collaborators:  Dr R Wainwright, Prof D Segal


The clinical and genetic profile of Huntington disease-like 2 (HDL2) in South Africa 
  • Researchers: Dr DG Anderson, Ms A Ferreira-Correia, Dr F Baine, Prof A Krause
  • Collaborators: Dr R Margolis (Johns Hopkins University, Baltimore, USA); Prof. J Carr (Stellenbosch University)


An investigation into the spectrum of Huntington disease phenocopies in the South African population
  • Researchers: Dr F Baine, Prof. A Krause


Investigating known cancer susceptibility genes in a cohort of black South African breast cancer individuals
  • Researchers: Ms R Pitere, Dr F Baine, Dr R Kerr, Ms T Wainstein, Prof. A Krause
  • Collaborator: Prof. Mary-Claire King (University of Washington, Seattle, USA)


Determining the molecular basis of spinal muscular atrophy in the South African black population
  • Researchers: Mrs E Vorster, Ms F Essop, Prof A Krause


The mutation spectrum of Rett Syndrome in South Africa
  •  Researchers: Mrs E Vorster, Ms F Essop, Prof A Krause


A six-year review (2009–2014) of MLPA testing performed in patients with developmental delay at the Division of Human Genetics, NHLS, Johannesburg
  •  Researchers: Mr Q Goodyear, Ms F Essop, Prof. A Krause
Human Genomic Diversity and Disease Research Laboratory
Lactase persistence alleles reveal partial East African ancestry of southern African Khoe pastoralists
  • Researcher: Prof. H Soodyall
  • Collaborators: Dr CM Schlebusch and Prof. M Jakobsson (Uppsala University, Sweden) Prof. M Lombard (University of Johannesburg, SA)


Natural selection for the Duffy-null allele in the recently admixed people of Madagascar
  • Researcher: Prof. H Soodyall
  • Collaborator: Prof. M Shriver (Penn State University, USA)


A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations
  • Researcher: Prof. H Soodyall
  • Collaborator: Prof. R Ramesar (University of Cape Town, South Africa)
Multifactorial Traits & Complex Disease
Exploring the psychology and genetics of sensory processing sensitivity in multicultural South Africa
  • Researchers: Mr A May, Dr M Pitman, Dr Z Lombard
  • Collaborators: Prof. L Richter (CoE Human Development) Prof. S Norris (DPHRU, Wits)


Genetic risk factors for gestational diabetes in a black South African population
  • Researchers: Ms N Botha, Ms S Macaulay, Dr Z Lombard
  • Collaborators: Prof SA Norris (Wits/MRC DPHRU)
New Frontiers
Development of a multi-disease targeted next generation sequencing panel to study genetic aetiology of RASopathies
  • Researchers: Ms MM Mudau, Dr N Carstens, Prof A Krause
Breastfeeding and the gut microbiome: impact on infant growth and development in South Africa
  • Researchers: Dr V Sahibdeen, Dr Z Lombard
  • Collaborators: Prof S Hazelhurst (Wits School of Electrical & Information Engineering), Prof SA Norris (Wits/MRC DPHRU)


Evaluation of the PowerPlex Fusion kit to resolve complex kinship disputes in a South African setting
  • Researchers: Ms MM Moremi, Dr V Sahibdeen and Prof Himla Soodyall