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

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. 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) and has received further funding from the FMHS and Harry Crossely Foundation.


Kimberly Coetzer​

​​Masters Candidate

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Kimberly obtained her BSc (Chemistry/Microbiology) from the University of the Free State in 2019. She moved to Cape Town in 2020 to pursue her BSc(Hons) at University of the Western Cape. ​She joined the RDGSA group in 2021 for her MSc (Human Genetics). Kimberly is optimising a clinical genomic bioinformatic pipeline while studying patients with osteogenesis imperfecta.


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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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.

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Reine Greef

​​Masters Candidate

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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. Reine is studying the utility of microarray in the prenatal South African setting.


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Jessica Cormick

BSC (Honours) Candidate


Jessica completed her BSc degree at Stellenbosch University (main campus) in 2020. She joined the RDGSA in 2022 for her BSc(Hons) project. Jessie will be studying patients with overgrowth syndromes, who are still undiagnosed. Her project is part of the Undiagnosed Disease Programme.







Thandokazi Mvelashe

​​Research Assistant


Thandokazi completed her BSc(Hons) in Nursing (cum laude) at UWC in 2019. She joined the RDGSA in 2022 as a research assistant.​ She is interested in clinical research and health economics.




Lucpah Nekati

​​Intern

 



Lucpah completed her MSc at UKZN in 2021. She joined the RDGSA in October 2021 as part of the HSRC 2-year Internship programme. As part of the internship, Lucpah is learning general lab management and research assistant skills.



Dr Magriet van Niekerk

​​MPhil candidate (Paediatric Neurology)

Magriet is a paediatrician who is subspecialising in Paediatric Neurology. Her MPhil project will look at the utility of genetic testing in the paediatric neurology clinic at Tygerberg Hospital. 

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.