Tuberculosis Host Genetics
Prof emerita 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.
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.
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 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.
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 Caitlin Uren completed her BSc in Molecular and Cellular Biology at the University of Cape Town in 2013 and her PhD at Stellenbosch University in 2017. She is currently investigating fine-scale human population structure in southern Africa as well as the impact this structure has on susceptibility to infectious diseases.
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.
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 in the Division of Molecular Biology and Human Genetics. Her Honours' project was focused on the ubiquitination of phagosomal membrane proteins in response to M.smeg infection. She is currently enrolled for her PhD degree in the same division, she would be characterizing the autophagic response to infection in M. tb-infected macrophages.
Anel Sparks finished her BSc degree in molecular biology and biotechnology at Stellenbosch University. She then joined the TB Host Genetics group in 2015 for her BSc (Hons) which looked at new ways to find candidate genes from tuberculosis genome-wide association studies. Her MSc was to perform a de novo genome assembly for a South African population to be used as a point of reference for genetic studies and was subsequently upgraded to a PhD.
Keren de Buys obtained her BSc in Molecular Biology and Biotechnology at Stellenbosch University. She then joined the Mycobactomics research group for her BSc (Hons) which identified mycobacterial protein-protein interactions. For her MSc, she took a break from TB research and moved to the Neuropsychiatric Genetics research group and identified novel markers of cardiometabolic risk in Black South Africans. For her PhD she has now gone back to TB research in the TB Host Genetics research group where her project aims to identify the mycobacterial proteins targeted by E3 ligases during xenophagy.
Charlene Clarke obtained her undergraduate degree (BScAgric Animal Science), BSc (Hons) and MSc Molecular Biology from Stellenbosch University. Her BSc (Hons) focussed on developing an immunological diagnostic assay for the detection of Mycobacterium suricattae infection in meerkats. Her MSc research project focussed on studying the optimal application of diagnostic assays for the detection of Mycobacterium bovis infection in cattle and buffaloes. Currently she is a first year PhD student. The project will focus on identifying novel mutations causing increased susceptibility to tuberculosis in Primary Immodeficiency patients, and investigating the functional genetics of the identified mutations.
Gerald van Eeden obtained a BSc in Human Life Sciences from the University of Stellenbosch in 2016 with majors in Genetics and Human Physiology. He completed his Honours degree in Molecular Biology in 2017; focusing on the effect that missing data has on models constructed from Luminex Assay data. He is currently a masters student in Molecular Biology and Human Genetics.
Yolandi Swart obtained her BSc degree in Human life sciences at Stellenbosch University, where she also completed her BSc Honours in Genetics in 2017. Her project investigated the sRNA responses and differential gene expression of grapefruit to the co-infection of CTV and viroids. Yolandi's Masters project aims to perform admixture mapping on populations of African ancestry, to investigate potential genetic variants that are associated with TB susceptibility.
Tina Meiring completed her BSc in Human Life Sciences and a honours in genetics at Stellenbosch University. Her honours focused on investigating schizophrenia risk variants for association with antipsychotic treatment response in a South African schizophrenia cohort. For her MSc she will be investigating selection and tuberculosis genetic susceptibilityin the African Wild dog (Lycaon pictus), by doing whole-genome sequencing and conducting population-based genetic analyses.
Nicole Brown obtained her BSc Human Life Sciences degree in 2017, majoring in Genetics and Physiology (Stellenbosch University). In 2018, she completed her honours degree in Human Genetics, in which she investigated the possible role of Snapin (a SNARE-associated protein involved in autophagy) in host immune response to Mycobacterium smegmatis infection. For her Masters, she will be investigating the role of Snapin in Mycobacterium Tuberculosis (M.tb) infection, specifically focusing on autophagy. This will involve measuring the expression of Snapin and other proteins within human macrophages after infection with virulent and avirulent strains of M.tb, while also monitoring the level of lysosomal acidification and M.tb survival within these macrophages.
Marius Engelbrecht studied BSc Molecular Biology and Biotechnology at Stellenbosch University and obtained his degree at the end of 2017, and completed his BSc honors in Human Genetics at the end of 2018 at Stellenbosch University Tygerberg Medical campus. Currently a first year MSc student part of the TB host genetics group and working on Primary immunodeficiency disease research.
Mulweli Mushiana obtained an honours equivalent BSc (Medical Sciences) degree majoring in Human Genetics at the University of Limpopo in 2018. For his MSc he will be discovering methylation changes of host macrophages upon infection with Mycobacterium tuberculosis strains varying in virulence i.e. Hypovirulent and Hypervirulent strains. I am working on identifying methylation changes of the host macrophages in M.tb infection based on the recent discovery that M.tb infection alters methylation pattern of the host macrophages so I will be determining how strains that differs in virulence affect this epigenetic factor, DNA Methylation, on the genes of host macrophages that are known to play a vital role during M.tb infection.
Robin Swart completed his BSc degree in Molecular Biology and Biotechnology at Stellenbosch University in 2017. In 2018 he completed a BSc Honours degree in Microbiology at Stellenbosch University. Currently he is a first year MSc student in Human Genetics, at the Stellenbosch University Tygerberg Medical campus, and is part of the TB Host Genetics group, conducting research into the causal genetic variants associated with severe combined immunodeficiency.
BSc (Hons) students
Denise Scholtz completed her BSc degree in Human Life Sciences, majoring in Genetics and Human Physiology. She is currently a BSc.Hons Human Genetics student investigating the effect of knocking out an X-linked candidate gene during Tuberculosis infection in vitro.
Janine Schuin completed her BSc in Molecular Biology and Biotechnology at Stellenbosch University. Her BSc Hons project will infer local ancestry on the X chromosome to determine if ancestral distributions correlate with TB susceptibility in this admixed SAC population. She will also determine if there are differences in the correlation and ancestral distribution on the X chromosome between males and females.
Samantha Bayley completed her BSc at Stellenbosch University. Her two majors were Physiology and Psychology. Samantha is currently doing her honours in Human Genetics. Her honours focuses on researching what pathogenic variants are present in an individual with Mabry syndrome.