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. 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 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.

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 intellectual disability 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 will commence her MSc 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.


Reine Greef

​​Masters Candidate


Reine is a medical laboratory scientist employed at Unistel Medical Laboratories, where she is responsible for prenatal chromosomal microarrays. She obtained her undergraduate qualifications at CPUT, and joined the RDGSA in 2019 as a part-time MSc (Human Genetics) candidate to study the utility of microarray in the prenatal South African setting.​

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.

​Dr Hiba Mohammed

​​MPhil candidate (Paediatric Neurology)

Hiba is a paediatrician from Sudan, who is currently completing her subspecialisation in Paediatric Neurology. Her MPhil project will look at the utility of genetic testing in a cohort of children with cerebral palsy at Tygerberg Hospital.