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Prof. Ambroise Wonkam

Professor of Genetic Medicine
Dr. Ambroise Wonkam is a professor of medical genetics, Director of GeneMAP (Genetic Medicine of African Populations), and Director, of McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore.

After a MD training from the Faculty of Medicine and Biomedical Sciences, University of Yaoundé I (Cameroon), he completed a thesis in Cell Biology in the department of Morphology, and a specialist training as medical geneticist at University of Geneva (Switzerland) and a PhD in Human Genetics (University of Cape Town, South Africa).  His research interests and international recognition by the academic community are reflected in > 180 peer-reviewed publications.

Dr. Wonkam has been investigating numerous monogenic conditions of High burden in Africa, e.g. Sickle cell disease and inheritable hearing Impairment in Africa with focus on the use of genetics in public health intervention. He has a traceable record of studying genomic factors that affect the SCD phenotype, specifically studying HbF-promoting loci and co-inheritance of SCD and alpha-thalassemia in Cameroon and genomic variants affecting Kidney Dysfunctions. Dr Wonkam was the principal investigator (PI) of a NIH funded H3Africa grant aiming to examine ethical issues relating to sickle cell genomics research in Cameroon, Tanzania and Ghana. Since 2017, we established the Sickle Africa Data Coordinating Center (SADaCC) to support the activities of the Sickle Pan African Research Consortium (SPARCo) site in Tanzania, Nigeria, Mali, Ungada, Zimbabwe, Zambia and Ghana. Moreover, his research has emphasized the huge genetic and locus heterogeneity in rare diseases in Africa including congenital hearing loss, and particularly genes variants and innovative finding in the genetic architecture that will inform the pathobiology globally. His has successfully advocated for more focus on Intellectual (syndromic and non-syndromic) by contributing to establish a section on Case report in Diverse Population in the American Journal of Medical Genetics (PMC7255818).

Related news

Science forum activity

We collaborated with eLwazi, DS-I Africa coordinating centre, MADIVA and the South African Medical Research Council at the annual Science Forum South Africa – Igniting conversations about science.

PUBGEM-Africa Scientific Advisory Board meeting

PUBGEM-Africa is funded by the National Institutes of Health (NIH), specifically the National Institute of Mental Health (Grant Number: 1 U01 MH127692-01), to explore the ethical issues and governance ecosystems of big data in genomics in Africa.

Etiologies of Early-Onset Hearing Impairment in Rwanda

By: Esther Uwibambe, Leon Mutesa, Charles Muhizi , Isaie Ncogoza, Elvis Twumasi Aboagye, Norbert Dukuze, Samuel M. Adadey, Carmen DeKock and Ambroise Wonkam

The human genome – the future in the past

Twelve researchers were offered the opportunity to reflect on the key challenges and opportunities faced by the field of genetics and genomics in an expert-led exploration. This initiative was in celebration of Nature Reviews Genetics’ 20th anniversary. Professor Ambroise Wonkam, director of Genetic Medicine of African Populations (GeneMAP) based at the Division of Human Genetics, in the University of Cape Town’s (UCT) Faculty of Health Sciences is amongst these researchers.

SAMRC Scientific Merit Award

The South African Medical Research Council strongly supports excellence in health research and has established a set of medal awards to recognise world-class science. The Awards are among South Africa’s most prestigious and are dedicated to contributions to health research in South Africa.

Explanatory models for the cause of Fragile X Syndrome in rural Cameroon

Fragile X Syndrome (FXS), also known as the most common inherited cause of intellectual disability (ID), is a neurogenic condition that affects twice as many males as females.

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Fragile X Syndrome (FXS) is the most common monogenic X-linked condition which causes variable degrees of Intellectual Disability (ID), autism spectrum disorder (ASD), delay in acquisition of speech and other cognitive skills; affecting one in 7143 males and one in 11,111 females [1–5]. Some individuals with FXS may present characteristics of facial appearance such as, a large forehead and prominent ears.

Sequence three million genomes across Africa

Capture the full scope of variation to improve health care, equity and medical research globally.

Growing Africa’s genetic ‘library of life’

The untapped potential of DNA technology to significantly boost healthcare in Africa, including the acceleration of diagnosis and treatment of threats like HIV and tuberculosis, substantiates the urgent need for focused investment in genomics.

University of Ghana scientists identify deafness causative gene

Scientists at the University of Ghana have identified a gene linked to inherited deafness in the country.