Tuberculosis Host Genetics
Prof Eileen Hoal joined Stellenbosch University in 1983 after a postdoc at the Roche Institute in New Jersey and established a high-quality cell culture facility in the department. The focus of the department changed to tuberculosis (TB) research in the 1990s and she was at the forefront of this change, investigating host-pathogen interactions in macrophages. This progressed to the question of genetic susceptibility, which has been her focus for the last 15 years. She was one of the first three PIs in the department to obtain external research funding, by GlaxoWellcome Action TB for a period of 4 years. She established a Biosafety level 3 lab in the department. She was the South African PI of a human genetic epidemiology study funded by the Sequella Global TB Foundation (now Aeras) and was the joint senior author on several publications resulting from this work. She is currently the head of the group working on host susceptibility to TB, consisting of approximately 20 people from BSc Hons students to senior researchers.
Glenda Durrheim has an MSc in Medical Biochemistry from Stellenbosch University and works in the Division, employed by PAWC (Tygerberg Hospital). Currently she is investigating genes involved in primary immunodeficiency disorders (PIDs), which may point to new candidate genes that play a role in susceptibility to tuberculosis. This builds upon earlier work investigating the cellular immune response to tuberculosis. Previously she investigated the genetic basis of long QT syndrome, an inherited heart disease, in the South African population and still offers molecular diagnosis for new members of affected families. Molecular diagnostic tests are being developed for local PIDs patients.
Dr Glynis Johnson is a protein biochemist whose work has concentrated on the cholinesterases and cholinesterase-like proteins, their evolution and adaptation to developmental and neurodegenerative processes. She has recently extended this work to bacteria, specifically, pathogen-host interactions during mycobacterial infection.
Dr Craig Kinnear obtained his PhD at Stellenbosch University in 2007. For his PhD, he focused on identifying novel genetic predisposing factors involved in the pathogenesis of obsessive-compulsive disorder and schizophrenia. Furthermore, he investigated signaling pathways involved in neuronal migration and brain development. Following his PhD, Dr Kinnear's research interest shifted towards studying the molecular mechanisms underlying the development of cardiac hypertrophy in patients with Hypertrophic Cardiomyopathy. In 2013, he joined the TB host genetics team where he is currently focusing on identifying disease-causing mutations in patients with primary immunodeficiencies who are extremely susceptible to tuberculosis. In addition to this, he is also investigating the extent to which different Mycobacteria tuberculosis strains induces autophagy in the human host.
Dr Marlo Möller has worked in the field of human genetic susceptibility since joining the TB Host Genetics group as a BSc(Hons) student in 2004. She received her PhD in 2007 from Stellenbosch University and is currently the holder of a prestigious Research Career Advancement Fellowship from the South African National Research Foundation. She is involved in several host genetic susceptibility to tuberculosis projects (some in the department and some together with international collaborators from Germany and the USA) which include tuberculous meningitis susceptibility, the role of ancestry in TB disease and primary immune deficiencies.
Dr Cedric Werely is an alumnus of both the University of Cape Town (B.Sc. 1983) and Stellenbosch University (Ph.D., 2012). He joined the Stellenbosch faculty in 1984 (Dept. of Urology) and moved to his current position in 1990. In that time his research interests have spanned tumours of the prostate, mechanisms involved in the descent of the testes, DNA fingerprinting, and host genetics in tuberculosis. Currently he is invested in the development of TB diagnostics, as well as studying the Pharmacogenetics of drug treatment regimens, especially drugs used in the treatment of tuberculosis.
Dr Elouise Kroon obtained her MBChB degree
at Stellenbosch University in 2012. She joined the TB Host Genetics group in
2016 where she is involved in the ResisTB project as the study clinician.
Vuyiswa Ndunana obtained her B.cur (Hons) degree at UWC in 2013 after which she completed a postgraduate diploma in Nursing at Stellenbosch University in 2016. She is currently serving the ResisTB group as a nurse, aiding in the recruitment and screening of research participants.
Siyabulela Justice Mboniswa obtained his B.cur from the University of the Western Cape. His experience to date includes working in intensive care units, TB/HIV and obstetric wards. He is currently part of the ResisTB team as a research nurse, where his main duties are recruiting and taking samples from participants.
Sihaam Boolay a research assistant for the ResisTB group. Her role is to process samples collected by the clinical staff and perform laboratory related tasks and tests.
Janice Theys works alongside Sihaam as a research assistant for the ResisTB group performing selected tests on the samples collected.
Dr Brigitte Glanzmann is currently a post-doctoral fellow working on the discovery of novel disease causing variants in patients with primary immunodeficiency diseases. Her project focuses on the whole exome sequencing of young children as well as individuals who have multiple bacterial infections such as TB.
Dr Nikola Schlechter completed a BSc in Human Life Sciences as well as a BSc (Hons) in Medical Physiology. She started with an MSc in Human Genetics, which was upgraded to a PhD. She graduated in March 2017. Her work is aimed at identify novel candidate genes for susceptibility to tuberculosis by identifying disease-causing mutations in individuals with Primary Immunodeficiency Disorders. She is continuing this work in her postdoc.
Caitlin Uren completed her BSc in
Molecular and Cellular Biology at the University of Cape Town in 2013 and her
BSC (Hons) at Stellenbosch University in 2014. She is currently completing her
PhD looking at the population structure present in southern Africa as well
as the implications of this structure on susceptibility to tuberculosis.
Haiko Schurz has a BSc (Hons) in Human genetics from Stellenbosch University's medical campus. The honours project looked into variations in the TOLLIP gene and how they influence TB susceptibility in the SAC population. Currently in his first year of masters and aiming to identify X chromosome variants that could influence TB susceptibility in SAC population. He is particularly interested in bioinformatic and biostatistics techniques and aims to utilise these to shed some light on the complexity involved in X chromosome analysis.
obtained her undergraduate degrees in Medical Bioscience at the University of
the Western Cape, and in 2016, graduated with an MSc in Bioinformatics from the
South African National Bioinformatics Institute (SANBI), based at UWC. Her
interest in developing computational methods to derive disease mechanisms was
sparked during her MSc during which she worked on miRNA-gene interactions in
Lupus. In 2016, Stephanie joined the TB Host-Genetics research group, to pursue
her PhD degree in a field of infectious disease with a tremendous impact on the
South African population. Within the South African Coloured (SAC) population,
she aims to identify associations between the host genotype, and the infecting
M. tuberculosis strain. Stephanie is jointly supervised by Drs Craig Kinnear
and Marlo Möller and Prof. Eileen Hoal of the Host Genetics group and Profs
Gian van der Spuy and Gerard Tromp of the Bioinformatics group.
Victoria Cole obtained a BSc degree in Genetics and Biochemistry at the University of Cape Town in 2014. She completed her BSc (Hons) in Human Genetics at Stellenbosch University in 2015, focussing on the functional characterisation of the ISG15 gene in Tuberculosis susceptibility. Currently she is a final year MSc student investigating Parkin targets on Mycobacterium tuberculosis using Confocal Microscopy, Co-Immunoprecipitation, Western Blot and ELISA.
Talani van Schalkwyk obtained her BSc. degree at Stellenbosch University in 2014. She completed her BSc (Hons) in Human Genetics in 2015 where she investigated the role of the LTA4H gene in TB and TBM susceptibility. Currently she is busy with her MSc. in Human Genetics. The aim of her study is to investigating whether the killing efficiency of Natural killer cells is influenced by the number of activating Killer immunoglobulin-like receptor genes. Additionally she will also genotype genetic variants from 29 genes that encode for TB biomarkers in DNA samples and conduct a case-control analysis to test for association between tuberculosis outcome and polymorphisms in this 29 genes. The aim is to add this genotyping data into a biomarker prediction model that consists of clinical, microbiological and immunological parameters determined in a previous study.
Naomi E. Okugbeni obtained her BSc Biomedicine degree at Midrand Graduate Institute (now Pearsons Institute) in 2015. She then moved to Stellenbosch University and obtained her BSc Honours in Human Genetics at the Division of Molecular Biology and Human Genetics. Her Honours project was focused on the ubiquitination of phagosomal membrane proteins in response to M.tb infection. She is currently enrolled for her Masters degree in the same division. She would be exploring the global ubiquitination profile in response to M.tb infection and identifying the E3 ligases involved in this process.
Anel Sparks finished her BSc degree in molecular biology at Stellenbosch University in 2014. In 2015 She joined the TB Host Genetics as a research assistant as well as for her BSc (Hons) which looked at new ways to find candidate genes from tuberculosis genome wide association studies. Currently, she is doing her MSc, in which she will strive to perform a de novo genome assembly of a South African population. This genome assembly will prove its use in the study of many diseases common within this population, such as tuberculosis.
BSc (Hons) students
Megan Ropertz completed her BSc in Molecular Biology and Biotechnology at the University of Stellenbosch and is currently doing her BSc (Hons) in Human Genetics at Tygerberg Medical Campus. During this time, she will be working on the identification of the disease-causing mutation in a patient with Distal Myopathy. The patient shows an unusual clinical presentation of muscle weakness in her upper and lower limbs and she will be doing exome sequencing to identify the disease-causing mutation.
Hannah King completed her undergraduate BSc degree in human genetics at the university of Pretoria in 2016 and is currently doing her BSc (Hons) in Human Genetics at Stellenbosch University. Her project focuses on the functional analysis of a promotor variant associated with tuberculosis susceptibility.