UCT/MRC Human Genetics Research Unit

Current projects

Much of our current efforts are aimed at high throughput genetic analysis and the use of bioinformatics and different models of analysis in order to identify the genetic basis of the more complex disorders. Some of the current projects include:

Cancer genetics
This has been a highly productive research project conducted with the Departments of Surgery and Medicine at Groote Schuur Hospital (GSH), and the Department of Pathology at UCT. Researchers comprise an inter-disciplinary group representing the disciplines of Public Health, Local Community, Epidemiology, Clinical Genetics, Oncology, Gastroenterology, Pathology, Molecular Genetics, Genetic Counselling and Family Practice, with the integral involvement of regional government departments in the Northern Cape. The research has led to a strong community based clinical service aimed at identifying individuals who are at risk for disease, providing genetic testing and counselling and follow up through clinical services. As a result, this is likely to be one of the most productive and successful projects undertaken to date in Applied Genetics in South Africa.

Ophthalmological genetics
This project draws on the resources of ophthalmologists throughout South Africa and focuses on the disorders of retinitis pigmentosa and macular dystrophy in order to identify:

• high risk populations;
• the epidemiology of the disease; and
• the genes underlying this group of very heterogeneous disorders.

Neurobiology
This project covers research into Huntington Disease, cerebellar ataxias, and prospectively the more complex disorders such as Alzheimer Disease, stroke, migraine and epilepsy, amongst others.

(i) Psychiatric genetics
In collaboration with psychiatrists nationally and the Department of Psychiatry at the University of Cape Town, we are investigating the genetically complex bipolar disorder. The current focus is on molecular genetic analysis of the vast biological material archive, in order to identify the predisposing genes and the biology of this disease in our populations.

(ii)Connective Tissue Disorders
A vast amount of material has been archived on connective tissue disorders in South Africa. With excellent historical research and clear clinical descriptions available, molecular genetic dissection of other South African disorders is currently underway in order to obtain a better understanding of their biology.

Co-Investigators on the Research Projects