Professor Ambroise Wonkam MD (Yaoundé) DMedSc (Geneva) PhD (Cape Town)
GENEMAP (Genetic Medicine of African Populations)
Professor and Senior Medical Genetics Consultant (HPCSA 0686980), Division of Human Genetics, Department of Pathology; & Member, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town.
Awarded the Clinical Genetics Society International Award for 2014 from the British Society of Genetic Medicine; and is Secretary of the African Society of Human Genetics, board member of the International Federation of Human Genetics Societies, council member of the Human Genome Organization, and steering committee member of the Global Genetic Medicine Collaborative.
Focus areas of research:
Sickle Cell Disease: genetic and public health intervention
Sickle cell disease (SCD) is a gene mutation that affects over 300 000 newborn babies every year, nearly three-quarters of those in sub-Saharan Africa. Ninety per cent of babies with SCD in Africa are believed to die before the age of five years. Ambroise Wonkam has a proven record on sickle disease research in Africa oriented in the used of genetics to address public health intervention. He has introduced the practice of prenatal genetic diagnosis of SCD in both Cameroon and Cape Town. He has a tractable record of studying the psychosocial burden of SCD and genomic factors that affect the SCD phenotype, specifically HbF-promoting loci and co-inheritance of SCD and alpha-thalassemia in Cameroon. He is PI of an NIH funded H3Africa grant aiming to examine ethical issues relating to sickle cell genomics research in Cameroon, Tanzania and Ghana (http://www.h3africa.org/consortium/projects).
In 2017, a range of research groups under the leadership of Ambroise have secured US$3.7 million through the US National Institutes of Health (NIH) and National Heart, Lung and Blood Institute (NHLBI) to establish the Sickle Africa Data Coordinating Center (SADaCC). This will build capacity to help Africa tackle this disease. Key to the work of the SADaCC is the coordination of longitudinal cohort studies.
Genetics of hearing loss in Africa
Ambroise and his research group has shown that Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in Africans and should not be routinely investigated in clinical practice. Subsequently, he has investigated 10 Cameroonian families with autosomal recessive non syndromic hearing loss, using a massively parallel targeted sequencing platform: the OtoSCOPE® which incorporates 116 hearing loss genes. Causative mutations were identified in 7 families (77.8%): in MYO7A in two families and the following genes were involved in the rest: CDH23, LOXHD1, SLC26A4A, OTOF, and STRC. Twelve mutations were novel and secondary findings of variants of unknown significance were reported for 7 of the 9 families. Whole Exome Sequencing of two of the 3 families that did not shown any mutation on the OtoSCOPE® panel has led to the discovery on a new gene of hearing loss (unpublished data). The proof of concept that the use of WES in ARNHL among African families could not only have major implication in practice for global African populations, but could lead to the discovery of new genes.
Capacity building and Genetic Education
Ambroise's research shows the major need to increase genetic knowledge at all the levels of medical education in Africa, through capacity building and the development of effective genetic services. He subsequently invests in medical genetic research and reports on an effective framework to increase capacity in human and medical genetics in Africa. Ambroise is involved in the development and teaching of UCT’s Medical Registrar program as well as the teaching of genetic counsellors and genetic laboratory staff.
Medical / research ethics in genetics
Ambroise has reported intensively on the major challenges on ethics of medical abortion in genetic medicine practice in Africa: a call for policy action in sub-Saharan Africa to rethink diagnostics for pregnancy affected by e.g. sickle cell disease. Differential views of medical doctors, parents and adult patients predicted value conflicts. He subsequently extended his ethics research to include the challenges of the uses of genetics for gender testing in sport, greatly contributing to the policy of the International Federation. He is also a strong advocate in changing research ethics practice in Africa, which has often failed to follow the basic principles and the need to engage communities.
KEY EXPERTISE: Genetic Medicine, Sickle Cell Disease, Hearing Impairment, Medical Ethics, Genetic Education
Makani J, Ofori-Acquah S F, Tluway F, Mulder N, Wonkam A. Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa. The Lancet (2017) 389(10087):2355-2358.
Geard A, Pule GD, Chetcha Chemegni B, Ngo Bitoungui VJ, Kengne AP, Chimusa ER, Wonkam A. Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon. Br J Haematol. (2017) May 3. doi: 10.1111/bjh.14724.
Wonkam A. Is there a role for pharmacogenetics in the treatment of sickle cell disease? Pharmacogenomics (2017) 18(4):321-325.
Lebeko K, Manyisa N, Chimusa ER, Mulder N, Dandara C, Wonkam A. A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing. OMICS (2017)21(2):90-99.
Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Clin Genet. (2016) 90(3):288-90.
Pule GD, Mowla S, Novitzky N, Wonkam A. Hydroxyurea down-regulates BCL11A, KLF-1 and MYB through miRNA-mediated actions to induce γ-globin expression: implications for new therapeutic approaches of sickle cell disease. Clin Transl Med. (2016) 5(1):15.
Wonkam A, Ngo Bitoungui VJ, Vorster AA, Ramesar R, Cooper RS, Tayo B, Lettre G, Ngogang J. Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon. PLoS One (2014) 9(3):e92506.
Wonkam A, de Vries J, Royal CD, Ramesar R, Angwafo FF 3rd. Would you terminate a pregnancy affected by sickle cell disease? Analysis of views of patients in Cameroon. J Med Ethics. (2014) 40(9):615-20.
Wonkam A, Mayosi BM. Genomic medicine in Africa: promise, problems and prospects. Genome Med. (2014) Feb 24;6(2):11.
Wonkam A, Njamnshi AK, Angwafo FF 3rd. Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa). Genet Med. (2006) 8(6):331-8.
Division of Human Genetics
Department of Pathology
Institute of Infectious Disease and Molecular Medicine
UCT Faculty of Health Sciences
Anzio Road, Observatory 7925
Tel: +27 21 406 6307
Cell: 083 471 0825
Fax: +27 21 650 2010
To be confirmed
To be confirmed