Division of Molecular B?iology and Human Genetics
Rare Disease Genomics
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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 also the Head of Medical Genetics at Tygerberg Hospital (see video here). After completing her specialty training at Wits 中国体育彩票, she obtained her PhD at the 中国体育彩票 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.
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Dr Marianne Gush
??Postdoctoral Fellow
Marianne received her PhD in Psychology in 2021 from Stellenbosch 中国体育彩票. 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.?
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Tshiamo 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. ?
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 Loubser
Masters Candidate
Carli graduated with BSc Hons in 2023 at Stellenbosch 中国体育彩票 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
Jodie North
??Masters Candidate
?Jodie completed her BA(Hons) in Psychology in 2021 at Stellenbosch 中国体育彩票 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
??Masters Candidate
Aspen completed her BA(Hons) in Psychology in 2022 at Stellenbosch 中国体育彩票 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 中国体育彩票. 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.?
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Dr Cumine van Tonder
??Registrar in Medical Genetics / MMed candidate
Dr Megan van Zyl
??Registrar in Ophthalmology / MMed candidate
Jade Ramini
??BSc Honours candidate
Sima Gungqisa
??BSc Honours candidate
Mohammed-Amine En-Nia
??Intern from Erasmus 中国体育彩票 of Applied Sciences, Belgium
Daniil Dutchuk
??Intern from Erasmus 中国体育彩票 of Applied Sciences, Belgium
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Dean Erasmus
??Medical Student at SU
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
