The Medical Genetic Unit is embedded within the Division of Human Genetics and provides medical genetic diagnostic, management and counselling services to adults and children at Groote Schuur Hospital, Red Cross War Memorial Children’s Hospital and UCT’s other affiliated hospitals as well as in the community. Recognising that our aim is to enhance the health and well-being of all those affected by genetic or partly genetic disorders in South Africa, the Division has an active teaching and research programme as well as acting as a national resource for health care professionals and the public and plays an active role is supporting the NHLS genetic diagnostic laboratory service.
The Division offers a 4 year medical genetic specialist training programme and a 2 year Master’s degree in genetic counselling. Staff are also active in teaching both undergraduate and postgraduate Health science students in all years and run nursing education courses. We are also committed to public education to improve genetic and genomic literacy as well as providing specific disorder information through patient support groups.
The Department of Human Genetics undertakes research into inherited disorders which are a major cause of disability in the populations of South Africa and Africa. Our investigations include clinical, genealogical and laboratory molecular studies. Current research areas include:
Chronic Diseases of Lifestyle
Forensic Genetic Research
Genetic Disorders of the Skeleton and Oro-facial Tissues
Heritable Disorders of Connective Tissue
Retinal Degeneration (Genetic Blindness)
Research/ medical ethic in genetics in Africa
Mutations in monogenetic diseases in the African population
Inherited Cardiovascular Conditions
Dysmorphology and Africa
Genetics of Hearing Impairment
Sickle Cell Disease: The establishment of a Sickle Africa Data Coordinating Centre (SADaCC) under the directorship of Professor Ambroise Wonkam will provide an international resource for data gathering and research into Sickle Cell Anaemia.
An outpatient diagnostic, management and counselling service is provided directly through adult genetic clinics, a prenatal counselling clinic and familial cancer clinics at Groote Schuur Hospital and paediatric genetic clinics at Red Cross War Memorial Children’s Hospital. This is augmented by participation in a large number of multidisciplinary clinics on both platforms. In addition, an inpatient consultation service is provided together with genetic screening clinics within the Cape Metropole and through the Southern Cape and Karoo.