Medical Genetics
????????????????The clinical genetics team is currently involved in the following research topics:??
?
Rare Disease Genomics?. Prof Shahida Moosa directs the Rare Disease Genomics in South Africa project within the Division. Using the latest in state-of-the-art genomic technologies, we study individuals and families with undiagnosed rare diseases and aim to provide them with accurate molecular genomic diagnoses. While “rare” diseases may be individually rare, cumulatively they affect a significant proportion of the population. Our aim is to identify the underlying genetic causes of rare diseases in South and southern Africa and to ultimately bring genomics into mainstream clinical diagnostics – a necessary step towards realising the promise of precision medicine in future. Our research team is multidisciplinary, bringing together researchers and clinicians with complementary skillsets. We are very fortunate to have research collaborations with world-class laboratories and research groups in Europe and the USA. Students and postdoctoral fellows are encouraged to discuss joining the group by emailing Prof Moosa on shahidamoosa@sun.ac.za?
Fetal alcohol spectrum disorder (FASD). FASD is the most common birth defect in the Western Cape and our team has a long history of involvement in FASD research. We partner with the Foundation for Alcohol-Related Research (FARR), an NGO which focuses on conducting medical and psycho-social research related to FASD, as well as the implementation of intervention and prevention programmes within at-risk communities in South Africa.
Down syndrome. We research issues in the care and prevention of Down syndrome. All research projects are conducted with input from the Down Syndrome Association of the Western Cape.
Cancer. In collaboration with the surgeons and oncologists responsible for the management of breast cancer patients at Tygerberg Hospital, we investigate the clinical, pathological and genetic characteristics associated with familial breast cancer.
Publications
1. Olivier L, Urban M, Chersich MF, Temmerman M, Viljoen D. Burden of fetal alcohol spectrum disorders in the rural West Coast of South Africa. South African Medical Journal; In press
2. Dandara C, Scott C, Urban M, Fieggen K, Arendse R, Beighton P. Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. South African Medical Journal 2012 8;102(7):631-3. PubMed PMID: 22748444.
3. Chersich MF, Urban M, Olivier L, Davies L, Chetty C, Viljoen D. Universal prevention is associated with lower prevalence of fetal alcohol spectrum disorder in Northern Cape, South Africa: a multicentre before-after study. Alcohol and Alcoholism, 2012; 47(1):67-74.
4. Urban M, Stewart C, Ruppelt T, Geerts L. Effectiveness of prenatal screening for Down syndrome on the basis of maternal age in Cape Town. South African Medical Journal, 2011; 101:45-48.
5. Boutall A, Urban MF, Stewart C. Diagnosis, etiology and outcome of fetal ascites at a South African Hospital.International Journal of Obstetrics and Gynaecology 2011; 115(2): 148-152.
6. DaviesL, DunnM, ChersichM, UrbanM, ChettyC, OlivierL, ViljoenD. Developmental Delay of Infants and Young Children with and without fetal alcohol spectrum disorder in the Northern Cape Province, South Africa. African Journal of Psychiatry 2011;14: 299-305.
7. Roberts T, Stephen L, Scott C, Urban M, Sudi S, Beighton P. Fibrodysplasia ossificans progressive: dental implications in five cases. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 2011; 112(1):11-18.
8. Scott C, Urban M, Arendse R, Dandara C, Beighton P. Fibrodysplasia Ossificans Progressiva in South Africa: Difficulties in management in a developing country. Journal of Clinical Rheumatology, 2011; 17(1):37-41.?
