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Professor Raj Ramesar PhD Fellow of UCT

Human Genetics Research Unit

Raj Ramesar

Director: SAMRC Precision and Genomic Medicine Research Unit [PGM] & CANSA’s Colorectal Cancer Research Consortium; Full Member, Institute of Infectious Disease and Molecular Medicine; Professor and Head, Department of Pathology, and Division of Human Genetics, Faculty of Health Sciences, UCT.

A major aspect of the Human Genetics Research Unit's agenda is the identification of genes underlying disease in South African populations. With the recognition that there is limited national capacity for high-throughput genotyping and sequencing technology, the Genomic Platform, for high-throughput genetic analysis 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. The improved infrastructure within the unit has been essential to realise our mission of increased capacity development.

Retinal Project
Since its inception in 1990, the Retinal Degenerative Disorders (RDD) screening programme at the Division of Human Genetics has made several advances in retinal research. In collaboration with Retina South Africa (Retina SA), the RDD registry/database has grown to contain 1250 families with DNA archived from 2990 individuals. Currently, the registry has clinical and genetic change (mutation) data on a wide range of patients who are affected with a range of RDDs including Stargardt disease, dominant, recessive and X-linked forms of Retinitis Pigmentosa, macular degeneration, Usher syndrome and Leber Congenital Amaurosis, amongst others. To date, RDD research at UCT, which is largely supported by Retina SA and other funders such as the Medical Research Council, has led to several advances in the identification of genetic causes of RDDs. More recently, the UCT research team, together with Retina SA, has been involved in the Estonia screening project, in which patient samples are sent for testing on the Asper Microarray Chips. These chips contain all known mutations and variations in a wide range of RDDs for which patient DNA samples are tested. Currently, 15% of families in the database have been fully characterised in terms of disease-causing mutations. The fact that genetic changes underlying RDD in South Africa are unique compared to other international study sites presents a challenge in our attempts to characterise families in the registry. The UCT RDD research team is constantly researching newly identified mutations as well as new screening methods that may enable detection of underlying mutations in inherited RDDs.

Colorectal Cancers
The Colorectal Cancer Research Consortium (CCRC), based in the Division of Human Genetics, was first established in 1999. This research focuses on assessment of the genetic basis of colorectal cancer (CRC), investigation of the sequence of molecular genetic changes that lead from neoplasm to malignancy in CRC as well as histopathology of CRC. Our investigations have contributed towards the hypothesis that a significant proportion of colorectal cancers along the West Coast of South Africa, in individuals under the age of 45 years of age, is due to a number of identifiable germline genetic defects. Genetic changes, causative of disease, have been detected in more than 30 families.  This led to an internationally recognized program which delivers a genetic and clinical surveillance program to communities in the rural North West of South Africa, with an effective reduction in both mortality and morbidity over more than 20 years. The program attracted an international clinical trial of simple aspirin, which has shown a significant level of effectiveness (Burn et. al, The Lancet (2011): 378(9809): 2081-2087).

Bipolar Disorder
The Bipolar research project, based in the Division of Human Genetics was first approved in 1996. The focus was on the molecular basis of Bipolar Disorder. A significant number of publications attest to the multidimensional analyses including neuropsychological profiling, imaging and functional genomics. From the genetics angle, our current work in this regard involves whole exome sequencing and whole genome sequencing.


Pharmacogenomics research is aimed at investigating the role of inherited characteristics in differential susceptibility to disease as well as response to commonly used medication. Our aim is to identify genes that predispose individuals to high risk of disease or poor response to treatment. The diseases of interest include cancer, schizophrenia, HIV/AIDS, TB and diabetes neuropathy. We would also like to identify marker of susceptibility to cancer using human cancer cell lines as model systems. 

Other active research projects

  • Cardiogenetics
  • Hypertension
  • Neurodegenerative Disorders
  • Muscular Dystrophy
  • X-Linked Mental Retardation

Public interface
Genetic research in the Unit is preceded by a history of good genetic practice of some 35 years in a well-established and functioning clinical, cyto and molecular genetics environment. Included in this programme of research is the unremitting clinical interest in the subject, family and community; tied to this is the commitment to providing follow up information to subjects on the ongoing research and potential benefits emanating from research. The Unit (and the Division of Human Genetics) has a historical and professional relationship with the South African Inherited Diseases Association (SAIDA) and several of its individual affiliates. Information for dissemination to support groups is developed with such organisations in order to be optimally informative and effective. Part of the employment condition of all students and staff is familiarisation with protocols to engage effectively with support groups, the public and range of media. Membership of steering committees and the national management committee of lay support organisations (such as Retina South Africa) have proven valuable in aligning our research with the needs of sufferers.


Selected publications:

Pierrache, L.H.M., Kimchi, A., Ratnapriya, R., Roberts, L., Astuti, G.D.N., Obolensky, A., Beryozkin, A., Tjon-Fo-Sang, M.J.H., Schuil, J., Klaver, C.C.W., Bongers, E.M.H.F., Haer-Wigman, L., Schalij, N., Breuning, M.H., Fischer, G.M., Banin, E., Ramesar, R.S., Swaroop, A., van den Born, L.I., Sharon, D., Cremers, F.P.M. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. (2017) Ophthalmology 124(7):992-1003

Katsidzira, L., Gangaidzo, I., Thomson, S., Rusakaniko, S., Matenga, J., Ramesar, R. The shifting epidemiology of colorectal cancer in sub-Saharan Africa. (2017) The Lancet Gastroenterology and Hepatology 2(5):377-383

Vorster, A., Beighton, P., Chetty, M., Ganie, Y., Henderson, B., Honey, E., Maré, P., Thompson, D., Fieggen, K., Viljoen, D., Ramesar, R. Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10. (2017) South African Medical Journal 107(5):457-462

Bauer, M., et al. Solar insolation in springtime influences age of onset of bipolar I disorder (2017) Acta Psychiatrica Scandinavica

Ramesar, R. Genomics: African dawn (2015) Nature 517(7534):276-277

Thompson, B.A., Spurdle, A.B., Plazzer, J.-P., Greenblatt, M.S., Akagi, K., Al-Mulla, F., Bapat, B., Bernstein, I., Capellá, G., Den Dunnen, J.T., Du Sart, D., Fabre, A., Farrell, M.P., Farrington, S.M., Frayling, I.M., Frebourg, T., Goldgar, D.E., Heinen, C.D., Holinski-Feder, E., Kohonen-Corish, M., Robinson, K.L., Leung, S.Y., Martins, A., Moller, P., Morak, M., Nystrom, M., Peltomaki, P., Pineda, M., Qi, M., Ramesar, R.,  et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database (2014) Nature Genetics 46(2):107-115

Rotimi, C., et al. Research capacity. Enabling the genomic revolution in Africa. (2014) Science 344(6190):1346-1348

Mathers, J.C., Movahedi, M., Macrae, F., Mecklin, J.-P., Moeslein, G., Olschwang, S., Eccles, D., Evans, G., Maher, E.R., Bertario, L., Bisgaard, M.-L., Dunlop, M., Ho, J.W.C., Hodgson, S., Lindblom, A., Lubinski, J., Morrison, P.J., Murday, V., Ramesar, R., Side, L., Scott, R.J., Thomas, H.J.W., Vasen, H., Gerdes, A.-M., Barker, G., Crawford, G., Elliott, F., Pylvanainen, K., Wijnen, J., Fodde, R., Lynch, H., Bishop, D.T., Burn, J. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial. (2012) The Lancet Oncology 13(12):1242-1249


Contact details:

Level 3, Wernher & Beit North
Division of Human Genetics
Institute of Infectious Disease and Molecular Medicine
Faculty of Health Sciences
University of Cape Town
Observatory 7925
South Africa

Tel:  +27 21 406 6297
Fax: +27 21 650 2010


Alternate sites:


Group members:

Dr Gloudi Agenbag Laboratory Manager - Senior Scientific Officer
Mrs Alina Esterhuizen NHLS Medical Scientist
Dr Shareefa Dalvie Lecturer 
Dr Lisa Roberts Senior Scientific Officer
Ms Lerato Majara Technical Officer
Mrs Heidi Paulse Senior Secretary
Sr Gameda Benefeld Research Nurse
Mr Zhaheed Smith Departmental  Assistant
MsTasneem Salie PhD Student
Ms Lindiwe Lamola PhD Student
Ms Anna Vorster PhD Student
Ms Horacia Naidoo PhD Student
Ms Stacey Moses PhD Student
Mrs Alina Esterhuizen PhD Student
Ms Tahira Kootbodien PhD Student
Dr Jashira Naidoo PhD Student
Dr Tracey Adams PhD Student
Dr Ramadhani Chambuso PhD Student
Ms Hannah-Ruth Engelbrecht Masters Student
Ms Tshegofatso Pelego Masters Student
Ms Maryanne Mufford Masters Student




Bodmer, Sir Walter Oxford University, UK
Burn, Prof John University of Newcastle, UK
Claire-King, Prof Marie University of Washington, USA
Knowles, Prof Jim University of Southern California, USA


Project based (Local Collaborators):

Beighton, Prof Peter Genetics of Skeletal Connective Tissue Disorders
Denny, Prof Lynn Genetics of Cervical Cancer
Genetics of Ovarian Cancer
Goldberg, A/Prof Paul Genetics of Colorectal Cancers
Colorectal Adenoma/Carcinoma Prevention Study
Govender, Prof Dhiren Genetics of CRC
Martin, Prof Lorna Genetics of Suicide
Naidoo, Prof Kevin Genomics of Breast Cancer
Ramma, Dr Lebogang Genetics of Cisplatin ototoxicity 
Robertson, Dr Barbara GIST Project/Colorectal Cancer 
Rayner, Prof Brian Genetics of Renal Disease
Singh, Dr Elvira National Cancer Registry, Genetics of Cancer
Stein, Prof Dan Genetics of Schizophrenia in the Xhosa population
Neural correlates of Methamphetamine users
Van der Spuy, Prof Zephne Genetics of Polycystic Ovaries Genetics of Fibroid Development 
Wilmshurst, Prof Jo Genetics of Childhood Epilepsy-RCH
Zar, Prof Heather Drakenstein Child Lung Health Study 
Ziskind, Prof Ari Retinal Degenerative Disorders