Department of anaessthesia

DIVISION OF HUMAN GENETICS

(Including the MRC/UCT Human Genetics Research Unit and CANSA Colorectal Cancer Research Consortium)

Head of Division: Professor Raj S. Ramesar
Divisional Profile
The Division is unusual in that it conducts its business through three ‘institutions’; an extensive clinical service through the Provincial Government of the Western Cape; its laboratory diagnostic services through the National Health Laboratory Services, and its academic activities (research and teaching) through the University. Our clinical base has been consolidated with Medical Geneticists, Genetic Counsellors and Genetic Nurses working cohesively. The recently established HPCSA-accredited MSc (Genetic Counselling) programme which is producing Genetic Counsellors for our clinics, has a potential to grow remarkably.
Apart from teaching in the medical undergraduate programme, courses are provided within the following programmes: BSc (Med) Hons, Medical Genetics subspecialist training and MSc (Genetic Counselling). The numbers of registered postgraduate students include 9 BSc (Med) Hons, 7 MSc and 4 PhD students. In addition, the Division has an active academic programme which is comprised of CPD-accredited weekly journal clubs, seminars and clinical ‘grand rounds’.
Our research programme which focuses on genetic diseases in South African populations, is meant to translate to patient care and management. The Genomic Platform, for high-throughput genetic analysis involving genotyping, mutation detection and DNA sequencing, has increased the workload within the Unit while offering spare capacity to other researchers in the Faculty of Health Sciences at UCT and the Western Cape, generally.
The ongoing Retinal Degenerative Disorders (RDD) research project has resulted in a large and invaluable genetic registry. The identification of the CA4 gene underlying a dominant form of retinitis pigmentosa in our laboratory has lead to the recognition of a novel disease mechanism, which may be amenable to chemical intervention. Families with the mutation are currently enrolled in a baseline study aimed at monitoring the structure and function of the retina, in order to identify those characteristic features that may quantifiably reflect the effects of a potential therapeutic. Furthermore, 174 families with retinal disease stand to benefit from a disease-causing mutation being identified in them. Our research findings are translated to genetic tests, which are made available to family members through a formal genetic counseling process. This work is done in close collaboration with the lay support group, Retina South Africa.
The Colorectal Cancer Research Consortium, which represents researchers from within Surgical Gastroenterology, Anatomical Pathology and Human Genetics (across UCT and the University of Stellenbosch), had previously described a substantial burden of disease along the west coast of South Africa, due to a founder mutation. Interesting ‘anthropogenetic’ work revealed that the mutation arose some 18 generations ago. Further work in this homogeneous cohort showed that a range of additional genetic changes (modifiers) influenced the age of onset and progression of disease. The identification of new mutations and the cascade screening of families over many years has shown a significant reduction in morbidity and mortality associated with this usually lethal disorder. A comprehensive clinical gastroenterological screening programme in the Northern Cape has been developed on the back of the genetics research and service. A two year clinical chemo-preventative trial based on inexpensive complex starch and aspirin has been running in our well characterized research cohort in whom predisposing genetic mutations have been identified. The results of this international collaborative work, coordinated by the British MRC, will be available in early 2007.
Research into the Genetics of Bipolar Disorder has produced two PhDs (one in December 2005 and the other in June 2006). Our research has expanded considerably to investigate neuropsychological aspects of the human brain in relation to bipolar disorder. This research is destined to grow particularly within the Brain/Behabiour Initiative at UCT.
The Division’s Research Laboratory continues to attract senior colleagues from other specialties, who are eager to be educated in genetics. Colleagues in Medicine, Surgery and Psychiatry are currently working on PhDs in this Division. Of particular note is the emphasis on the genetics of common chronic disorders. The Division, with the Africa Genome Education Institute has made a special effort to engage with the public through the Darwin Seminar Series. This quarterly evening lecture,series aimed at popularizing science through presentations that combine human history, genetics and evolution, attracts capacity audiences.
Highlights:

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  Certification of two subspecialist Medical Geneticists (the first to proceed through a formal HPCSA approved curriculum, and ‘inaugral’ graduation of two MSc(Genetic Counselling) students
  
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  Translation from gene discovery to clinical trial in retinal genetics project
  
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  Implementation of clinical trial in colorectal cancer project, based on years of research and intervention programme based on predictive genetic testing
  
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  Visit to University and Division by two of the major figures in the international Human Genome Project, Dr Eric Lander (Massachussetts Institute of Technology, USA) and Dr J Craig Venter (The Institute for Genomic Research, USA)
  

Visits to Division

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  Dr Mathew Wood visited 28 March and presented at the weekly seminar 'Nucleic acid therapies for neurological and muscular disease'
  
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  Prof Eric Lander (see above).
  
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  Prof Peter Singer, Director, Centre for Bioethics, University of Toronto, Canada
  
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  Dr Elize Heon Chief, Professor of Opthalmology, Hospital for Sick Children, University of Toronto, Canada – lecture on Update on Retinal Research 7 August
  
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  Dr John Flannery – Professor of Visiion Science and Molecular Cell Biology, University of California, USA – Engineering Gene transfer to the Diseased Retina
  

Divisional Statistics