
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).










![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.](https://genemap.africa/wp-content/uploads/2023/06/genes-11-00136_2.jpg)


