TEAM MEMBERS
Prof Shahida Moosa
Professor and Head of Medical Genetics (Tygerberg Hospital)
Head of Rare Disease Genomics research group
shahidamoosa@sun.ac.za
Prof Shahida Moosa is an internationally-trained clinician-scientist. She is a medical genomicist and combines her knowledge and skills of clinical genomics, bioinformatics, molecular biology and molecular genomics to lead the Rare Disease Genomics in South Africa research group. She is a full professor in the Division of Molecular Biology and Human Genetics and the Head of Medical Genetics at Tygerberg Hospital (see video here). After completing her specialty training at Wits University, she obtained her PhD at the University of Cologne, Germany (summa cum laude), followed by a postdoctoral fellowship at Harvard Medical School and Boston Children's Hospital. Prof Moosa is very passionate about bringing genomics to Africa and using these technologies to benefit African patients, especially those who are still undiagnosed. She is also committed to mentoring younger scientists, and to skills transfer and capacity building in southern Africa.
Prof Moosa has been awarded a C2 NRF rating in recognition of her status as an independent researcher and is the only Medical Geneticist in South Africa with an NRF rating. She serves as Section Editor (Clinical Genetics) for the European Journal of Human Genetics and Associate Editor for the American Journal of Medical Genetics Part A. She also serves as an expert on two ClinGen Gene Curation Expert Panels: ClinGen Syndromic Disorder Gene Curation Expert Panel and the ClinGen Skeletal Disorders Gene Curation Expert Panel.
Prof Moosa co-leads the newly-established Africa/EU Cluster of Research Excellence "Genomics for Health in Africa"
Prof Moosa is funded by the SAMRC Early Investigator Programme (2022-2027) [read press relase here] and has received further funding from the SAMRC, the FMHS and Harry Crossley Foundation.
Dr Marianne Gush
Postdoctoral Fellow
Marianne received her PhD in Psychology from Stellenbosch University in 2021. She is a passionate qualitative researcher whose work focuses on the lived experiences of rare disease patients, families, and the healthcare professionals who care for them. She is currently leading a study exploring how South African healthcare professionals perceive and engage with the rare disease landscape. Together with her master’s student, she is also investigating the experiences of patients and caregivers using a novel approach to data collection. Marianne is committed to developing innovative, person-centred research methods and continues to develop various projects aimed at amplifying the voices of underserved communities affected by rare disease.
Dr Yolandi Swart
Postdoctoral Fellow
Dr Yolandi Swart holds a PhD in Human Genetics from Stellenbosch University, where she studied ancestry-specific genetic susceptibility to tuberculosis, type 2 diabetes, and their comorbidity in southern African populations. Her expertise spans bioinformatics, statistical genetics, and rare disease genomics, with a focus on underrepresented African populations. She currently works on long-read methylation analysis, variant prioritization pipelines, and the clinical integration of whole-genome sequencing for rare disease diagnostics.
Dr Stephanie Ncube
Postdoctoral Fellow
Sinegugu Leka Mhlophe
PhD Candidate
Leka just joined us as a PhD student. She will be exploring various types of data to give a full picture of the underlying mechanisms present in skeletal dysplasia patients in the UDP.
Jade Ramini
Masters Candidate
Jade completed her BSc(Hons) degree in Molecular Biology and Human Genetics in our group in 2024, graduating cum laude. Her Honours project focused on identifying the causative variant in children with cerebral palsy. She is now a first-year MSc student, investigating the genetic aetiology of multiple congenital abnormalities in fetuses using exome sequencing data.
Montana. Robinson
Masters Candidate
Thandokazi Mvelashe
Research Nurse and Masters candidate
Thandokazi completed her BSc(Hons) in Nursing (cum laude) at UWC in 2019. She joined the RDGSA in 2022 as a research nurse. She is pusuing her MPhil in Global Health focussing on Health Economics in Rare Diseases in 2023, co-supervised by Prof Moosa.
Carli Loubser
Masters Candidate
Carli graduated with BSc Hons in 2023 at Stellenbosch University and joins us for MSc in 2024. She is passionate about rare diseases and wants to find a cure for at least one! For MSc she will be focussing on patients and families with rare blood disorders.
Jana van der Westhuizen
Masters Candidate
Jana joins us for MSc after completing her BSc Hons at UCT in 2023. Her MSc project focusses on incorporating RNA sequencing into the Undiagnosed Disease Programme - to solve the unsolved.
Hannah Neuhoff
Masters Candidate
Hannah completed her BA(Hons) in Psychology (cum laude) in 2023 at Stellenbosch University and joined the RDGSA in 2025 to pursue her MA (Psychology). Her research focuses on the experiences of caregivers of children with Rare Diseases in South Africa. She is passionate about informing more inclusive support systems in the public health sector.
Dr Cumine van Tonder
Registrar in Medical Genetics / MMed candidate
Cumine joined Tygerberg Hospital Medical Genetics in 2022, to pursue her dream of becoming a Medical Geneticist. She has an interest in adult neurology, having worked for many years in Rehabilitation Medicine. Her MMed project will focus on genomic testing in the Adult Neurogenetics clinic.
Dr Megan van Zyl
Registrar in Ophthalmology / MMed candidate
Megan is co-supervised by Prof Moosa and Dr Du Toit (Ophthalmology). Her project focusses on unravelling the genetic underpinnings of primary congenital glaucoma in South African children.
Sinalo Mgqwetho
BSc Honours Candidate
Mohammed-Amine En-Nia
Intern from Erasmus University of Applied Sciences, Belgium
Daniil Dutchuk
Intern from Erasmus University of Applied Sciences, Belgium
Dean Erasmus
Dean is joined us in 2023 for his clinical elective. He completed a BSc at Stellenbosch University, majoring in Genetics. He is currently a 6th year medical student. He has an interest in Medical Genetics and research and we think that our group is the best place for Dean to combine all his interests!
Boipelo Shai
Medical student at SU - joined us in 2024 for 5th year clinical elective
Kayla Stuurman
Medical student at SU - joined us in 2024 for 5th year clinical elective
