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.


Marianne_pic.jpgDr Marianne Gush

​​Postdoctoral Fellow

Marianne received her PhD in Psychology in 2021 from Stellenbosch University.  She is an expert qualitative researcher and a champion for positive psychology. So much work needs to be done to understand what our families with Rare Diseases needs and challeneges are, and we look forward to Marianne's positive impact on research and care for our Undiagnosed Disease Programme families.

Tshiamo_Motsoane.jpgTshiamo Motsoane

​​PhD Candidate

Tshiamo received her MSc cum laude in 2023 and worked as a laboratory assistant in our group, which is when her interest in rare diseases was established. She joins us formally in 2024 to pursue her PhD on a ground-breaking multi-omic approach to rare disorders of bone. ​

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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, co-supervised by Prof Moosa.

Carli.jpgCarli 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 the genomic underpinnings of lupus nephritis. Jana is co-supervised by Prof Carine Smith from the Department of Experimental Medicine. 

Abigail Braun

​​Masters candidate 

Abigail began her MSc (Human Genetics) journey in 2023 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.​​

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 Prof 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 Prof ​Chrisma Pretorius.

Melissa Goosen

Masters Candidate

Melissa completed her BA(Hons) in Psychology in 2023 at Stellenbosch University. She joins the RDGSA in 2024 for MA (Psychology). Her focus will be on the siblings of patients with rare diseases and exploring their experiences. She is co-supervised by Prof ​Chrisma Pretorius.


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. 

Dean.jpegDean Erasmus

​​Medical Student at SU  

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!