Rare Disease Genomics
Welcome to Stellenbosch University

Division of Molecular B​iology and Human Genetics

Rare Disease Genomics

​​​​​​​​​​​​​​​​​​TEAM MEMBERS

Prof Shahida Moosa

​​Head of Medical Genetics (Tygerberg Hospital)

Head of Rare Disease Genomics​​ research group



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 also 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 FMHS and Harry Crossley Foundation.

Wonderful_pic.pngWonderful Choga

PhD Candidate

Wonderful graduated from the University of Cape Town with an MSc (Human Genetics) (cum laude) in 2022. He joined the RDGSA in 2023 to pursue his PhD (Human Genetics). Wonderful will be the first person to explore the impact on diagnosis and novel gene discovery of whole genome sequencing on deeply phenotyped South African children with undiagnosed rare diseases. His study forms an important part of the Undiagnosed Disease Programme.

Alannah Theron

​​Masters Candidate

Alannah graduated from Stellenbosch University with a BSc(Hons) degree in 2021. She joined the RDGSA in 2022 to pursue her MSc (Human Genetics). Alannah is using best practice bioinformatic tools to diagnose syndromic patients as part of the Undiagnosed Disease Programme.

Rafiya Ismail

​​Masters Candidate

Rafiya obtained her BSc(Hons) in BIotechnology from the University of the Western Cape in 2021. She joined the RDGSA in 2022 to complete her MSc (Human Genetics). Rafiya uses open-source bioinformatic pipelines to diagnose patients with neurodevelopmental disorders in the Undiagnosed Disease Programme.

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Jessica Cormick

Masters Candidate

Jessica completed her BSc(Hons) degree in our group in 2022, where she graduated cum laude and was the top student in her class. Jessie will continue her work on patients with overgrowth syndromes, who are still undiagnosed. Her project is part of the Undiagnosed Disease Programme.

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.

Jodie North

​​Masters Candidate

Jodie completed her BA(Hons) in Psychology in 2021 at Stellenbosch University and joined the RDGSA in 2022 to pursue her MA (Psychology).​ Jodie is exploring the challenges faced by caregivers of children with Rare Diseases in South Africa. She is co-supervised by Dr Chrisma Pretorius

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Aspen Hendricks 

​​Masters Candidate

Aspen completed her BA(Hons) in Psychology in 2022 at Stellenbosch University and joined the RDGSA in 2023 to pursue her MA (Psychology).​ Aspen is interested in mental health issues faced by caregivers of children with Rare Diseases in South Africa. She is co-supervised by Dr Chrisma Pretorius.

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Ndumiso Radebe 

​​BSc (Hons) Candidate

Ndumiso completed a BSc degree at UJ in 2022. As the newest member of the team, Ndumiso joins the Undiagnosed Disease Programme for​ a BSc (Hons) degree.

Tshiamo_Motsoane.jpgTshiamo Motsoane

​​Research Assistant / MSc candidate in TB Drug development

Tshiamo is a temporary laboratory assistant in our group. She is concurrently completing her MSc in TB Drug development. She brings order to the chaos in the lab with her meticulous work and dedication.

Cumine_van_Tonder.jpgDr 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. 

Dean.jpegDean Erasmus

​​5th year Medical Student at SU  

Dean is joining us for his clinical elective. He completed a BSc at Stellenbosch University, majoring in Genetics. He is currently a 5th year medical student, and using his elective time to pursue his interest in Medical Genetics. He also would like to develop his research skills and we think that our group is the best place for Dean to combine all his interests! 

Abigail Braun

​​Masters candidate 

Abigail is pursuing her MSc (Human Genetics) in the Parkinsons Research group (Prof S Bardien), our neighbours in the MAGIC lab. Her study involves families with likely monogenic Parkinsons Disease. She is co-supervsied by Prof Moosa.​