Guest editorial: Human Genetics Day, September 30, 2002

30 September 2002

By Professor Raj Ramesar
Director: MRC/UCT Human Genetics Research Unit
Department of Human Genetics

CLINICAL Genetics is a burgeoning international field, which is moving from a descriptive and phenomenological endeavour to one of deeper investigation at the laboratory level and within families and communities. UCT is well placed having, until recently, been the only accredited training centre for clinical genetics in the country (now Wits is the other training centre). The Division of Human Genetics is well placed to expand this role, with a constant demand from other specialities to provide training to its registrars in this new field. Moreover, there is a very strong lobby to elevate the status of Clinical Genetics to primary speciality as has been done in the UK, USA and parts of Europe.

Genomic medicine involves an understanding of the human genome and the use of this information for the management of disease or predisposition to disease. The Division has a strong pedigree of research, which is purpose driven and targeted for use in our clinics. Ultimately, information emerging between the laboratory and clinical aspects of Human Genetics are combined to provide predictive information and identification of individuals who are at high risk, before they develop disease. This capability is already being used to predict which individuals in families and specific communities are going to develop breast and colorectal cancer, neurodegenerative diseases (like Huntington disease and Spinocerebellar ataxia) and muscular dystrophies.

Tests can be designed to predict these disorders even prenatally. This remarkable practice is going to revolutionise the practice of medicine. Soon enough and with adequate research into our varied South African populations, we will be able to predict who in the community is at highest risk for e.g. for other cancers, diabetes, hypertension, cardiovascular disease, asthma, psoriasis, and susceptibility to infectious diseases. UCT is committed to be a leader in crafting and honing its capacity to face future challenges.

A strong niche for training individuals in public health related modules to do with genetic predisposition to disease is currently being designed, as is a Masters course in genetic counselling. These niche markets anticipate the demand for 'genetic knowledge' in health management. Furthermore, the development of computer-based tools to complement the search for and identification of disease causing genes is being vigorously pursued as part of the genomic medicine endeavour.

This field of Bioinformatics will also be a niche market that will service our strong research community. This core facility, which is currently functional in Human Genetics, is meant to expand in our Faculty, and be an expert site, which will be used for training South Africans and Africans generally. The Division of Human Genetics is well placed with the functioning of an MRC Research Unit for Human Genetics, which is meant to be a corner post to advance genomics nationally.

A research team lead by Ramesar and colleague Prof Jacquie Greenberg, together with Dr Chris Inglehearn at Leeds University (UK), hit the jackpot recently when they found the genetic defect which causes a form of retinitis pigmentosa, a degenerative disease of the retina, which is the leading heritable cause of blindness in South Africa.

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