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(Including the  MRC/UCT Human Genetics Research Unit and CANSA’s National 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 interacting ‘institutions’;

(i)       an extensive clinical service through the Provincial Government of the Western Cape;

(ii)      its laboratory diagnostic services through the National Health Laboratory Services, and

(iii)      its academic (research and teaching) activities through the University and the Medical Research Council. 

The Human Genetics Research Unit was created while the Human Genome Project was underway.  The mandate for this Unit was (i) primarily one of capacity development in the field of Genetics and Genomics, (ii) understanding the relevance of developments in genetics and genomics, as they may be applicable to South Africans, and Africans generally, and (iii) the translation of research to the clinical environment.  The Unitfunctions under the Directorship of Prof. Raj Ramesar. 

The esearch facility within the Division currently houses biological material from more than 10 000 research subjects, from a wide variety of classically recognized genetic disorders, and from common chronic disorders.  Under Genetic Medicine, an emphasis is placed on research focused on translation to clinic.There has been a distinct move from research on typical monogenic disorders towards engaging with the burden of disease in South Africa.  The Division’s publication output stands at 53 for the past 2 years alone. 

An emphasis within this Division, and the Research Unit is the investment in understanding the rich Human Diversity on our continent and relating this to disease and health.  In this regard there has been a head-on engagement with state of the art high-throughput genetic studies of indigenous southern African populations, which has resulted in the empowerment and capacity development of South African researchers in large scale data handling and analysis.  This and other projects involve fruitful collaborations with other Unit directors, such as Professor Himla Soodyall at NHLS (University of Witwatersrand) and colleagues in bioinformatics in the National Bioinformatics Node at UCT. 

A further investment has been in taking genetics to the ‘clinical high street’.  A measure of relevance and success of the Unit in this regard, is its attraction to other mainstream clinical practitioners e.g. from the disciplines of Gastroenterology, Nephrology/Hypertension, Internal Medicine, Psychiatry, Surgery, and Dentistry (UWC) who are completing PhDs in Genetics, in this Unit.  A substantial effort has been made into introducing Genetics/Genomics into the undergraduate MBChB curriculum and to specialist groups. 

The Unit Director is involved in a comprehensive outreach programme aimed at getting scholars and the public more informed and interested in science and research.  This aspect is largely through the director’s involvement with the NGO, Africa Genome Education Institute.  The Director of the AGEI, Wilmot James remains an Honorary Professor in the Division. 

The outreach programme is in the form of: (i) the quarterly evening Darwin Public Seminar Series held on the Health Science Campus (and more recently at the University of the Western Cape, and the University of Stellenbosch), and particularly aimed at popularizing science through presentations that combine human history, Genetics and evolution, (ii) Darwin 200 (a year-long series of events celebrating the 200th anniversary of Charles Darwin’s birth, and (iii) the Teaching Biology Project (TBP), a programme of engagement with teachers of science at high schools. 

The Unit’s role in effective and evidence-based translational research was recently recognized through the Vice-Chancellors Alan Pifer Award to Professor Ramesar for his research on colorectal cancers in the communities of the northern Cape Province “in recognition of outstanding research that demonstrates relevance to the advancement and welfare of South Africa’s disadvantaged people”. 

The clinical base within the Division has been consolidated with Medical Geneticists, Genetic Counsellors and Genetic Nurses working cohesively. A major national advance for the discipline has been the evolution of Medical Genetics from a subspecialty to a primary specialty (gazetted August 2007) and our first primary speciality registrar was appointed. The HPCSA-accredited MSc (Genetic Counselling) programme which is producing Genetic Counsellors for our clinics, has a potential to grow remarkably, and adds enormous value to Medical Genetic services.

Apart from teaching in the medical (MBChB) undergraduate programme, formal courses/modules are provided within the following programmes: BSc(Med) Hons, Medical Genetics specialist training and MSc (Genetic Counselling) The numbers of registered postgraduate students include 8 BSc (Med)Hons, 12 MSc and 9 PhD students and 1 MMed student  In addition, the Division has an active academic programme which is comprised of CPD-accredited weekly journal clubs, seminars and clinical ‘grand rounds’.

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.Our research programme which focuses on genetic diseases in South African populations, emphasises translational aspects involving high tech bench work linked to patient care and management.

The Division’s Research Laboratory continues to attract senior colleagues from other specialties, who are eager to add the repertoire of genetic and genomic technologies to their clinical skills.Colleagues in Medicine (Prof. Brian Rayner), Surgery (Professor Paul Goldberg) and Psychiatry (Dr Neil Horn) are currently working on PhDs in this Division.  Dr Ikechi Okpechi from the Department of Medicine graduated with a PhD in December 2008, working on the genetics of Metabolic Syndrome.  Current research continues to focus on the genetics of common chronic disorders.


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