Ambroise Wonkam | |
|---|---|
| Alma mater |
|
Ambroise Wonkam is a Cameroonian medical doctor and professor of medical genetics at Johns Hopkins School of Medicine. His research is in sickle cell disease, the genetics of congenital hearing impairment, and ethics in human genetics. He is the current president of the African Society of Human Genetics.
Ambroise Wonkam was born in Yaoundé, Cameroon. He studied at the Faculty of Medicine and Biomedical Sciences of the University of Yaoundé I, where he received his MD in 1995. [1] [2] In 1997, he went to the University of Geneva to train in cell biology before specializing in medical genetics. [2] He received his doctorate in Medical Sciences in the Department of Morphology on the topic Burden of sickle cell disease and prenatal genetic diagnosis in Cameroon (French: Fardeau de la drépanocytose et diagnostic génétique prénatal au Cameroun ). [3]
Wonkam is a medical practitioner in African and European countries. He joined the University of Cape Town as faculty in 2009, where he studied sickle cell disease and why its severity and mortality varied between individuals. [2] He became professor of medical genetics at the Faculty of Medicine where he was the deputy dean of research and director of the Genetic Medicine of African Populations (GeneMAP) program, which he founded in 2017. [2] [4] He became president of the African Society of Human Genetics in 2019. In 2021, he was named director of genetics at the Johns Hopkins School of Medicine. [4]
Wonkam is spearheading the Three Million African Genomes project, which aims to sequence the DNA of three million Africans in order to make up for systemic shortfalls in the study of the human genetic diversity of Africans. [5] He has proposed that the project be funded by African countries. [6] In 2022, he was a guest editor for special issues of Nature calling for the decolonization and elimination of racism in science. [7]
| International | |
|---|---|
| Academics | |
| Other | |
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
Yuet Wai Kan, is a Chinese-American geneticist and hematologist. He is the current Louis K. Diamond Chair in Hematology and a Professor Emeritus at the University of California, San Francisco. He is a former president of the American Society of Hematology.
Trefor Jenkins is a human geneticist from South Africa, noted for his work on DNA. He is the former dean of the medical school at the University of Witwatersrand.
Harvey Akio Itano was an American biochemist best known for his work on the molecular basis of sickle cell anemia and other diseases. In collaboration with Linus Pauling, Itano used electrophoresis to demonstrate the difference between normal hemoglobin and sickle cell hemoglobin; their 1949 paper "Sickle Cell Anemia, a Molecular Disease" was a landmark in both molecular medicine and protein electrophoresis, though the use of electrophoresis to separate hemoglobin variants had been pioneered by Maud Menten and collaborators some years earlier.
Sickle cell disease (SCD) is a group of blood disorders typically inherited. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain, anemia, swelling in the hands and feet, bacterial infections, and stroke. Long-term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years.
James Edward Bowman Jr. was an American physician and specialist in pathology, hematology, and genetics. He was a professor of pathology and genetics at the Pritzker School of Medicine at the University of Chicago. He published more than ninety works across the fields of human genetics; population genetics; and ethical, legal and public policy issues in human genetics. He received many awards, including the Chicago African American History Makers Award and recognition from the Hastings Center and Stanford’s Kaiser Family Foundation, and Howard University.
For preventing Tay–Sachs disease, three main approaches have been used to prevent or reduce the incidence of Tay–Sachs disease in those who are at high risk:
Karin J. Blakemore is a leading medical geneticist and works in gynecology and obstetrics, human genetics, and maternal and fetal medicine. Dr. Blakemore's major contribution to medicine stems from her research as a member of a team that aimed to fight genetic disorders through the in utero transplantation of donor cells using a mouse as an animal model. Through this initial research in regards to first trimester prenatal diagnosis, Blakemore initiated the beginning of research on in utero bone marrow transplantation for genetic disorders of the fetus.
Felix Israel Domeno Konotey-Ahulu FGA, FRCPSG, FRCP, FWACP is a Ghanaian physician and scientist who is Kwegyir Aggrey Distinguished Professor of Human Genetics at the University of Cape Coast, Ghana, and a consultant physician/genetic counsellor, Haemoglobinopathy/Sickle Cell States, in Harley Street, London. He is one of the world's foremost experts on sickle-cell disease.
Stuart Holland Orkin is an American physician, stem cell biologist and researcher in pediatric hematology-oncology. He is the David G. Nathan Distinguished Professor of Pediatrics at Harvard Medical School. Orkin's research has focused on the genetic basis of blood disorders. He is a member of the National Academy of Sciences and the Institute of Medicine, and an Investigator of the Howard Hughes Medical Institute.
Muntaser Eltayeb Ibrahim is a Sudanese geneticist and professor of molecular biology at the University of Khartoum, where he leads its Institute of Endemic Diseases. Science described him as "one of Sudan's most distinguished living scholars". His research focuses on human genetic diversity in Africa, human genetic variation contributing to susceptibility to infectious diseases such as malaria and leishmaniasis, and cancer genetics.
Kiran Musunuru is an American cardiologist who is a Professor of Medicine at the University of Pennsylvania Perelman School of Medicine. He researches the genetics and genomics of cardiovascular and metabolic diseases. Musunuru is a leading expert in the field of gene-editing.
Neil Hanchard is a Jamaican physician and scientist who is clinical investigator in the National Human Genome Research Institute (NHGRI), where he leads the Childhood Complex Disease Genomics section. Prior to joining NHGRI, he was an associate professor of molecular and human genetics at the Baylor College of Medicine. He is a fellow of the American College of Medical Genetics and Genomics,. Hanchard's research focuses on the genetics of childhood disease, with an emphasis on diseases impacting global health.
The African Society of Human Genetics (AfSHG) is a learned society and professional membership organization focused on the study of human genetics and genomics in Africans, and open to researchers who are interested in the subject. It has played a role in founding several national genetics societies, and is affiliated with the societies of Cameroon, the Democratic Republic of the Congo, Mali, Egypt, Rwanda, Senegal, South Africa, and Tanzania.
Grant Robert Sutherland is a retired Australian human geneticist and celebrated cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.
Three Million African Genomes (3MAG) is a human genetics project inaugurated by Ambroise Wonkam of Cape Town University in South Africa. The project's aim is to correct for the systemic shortfall in the collection and analysis of genomic data of Africans, who have the widest genetic variation among human populations, via sequencing to capture "the full scope of variation to improve health care, equity and medical research globally". Three million is the initial rough estimate of the sample size required to capture the variation.
Haig H. Kazazian, Jr. was a professor in the Department of Genetic Medicine at Johns Hopkins University School of Medicine in Baltimore, Maryland. Kazazian was an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences.
The genetic history of the African diaspora is composed of the overall genetic history of the African diaspora, within regions outside of Africa, such as North America, Central America, the Caribbean, South America, Europe, Asia, and Australia; this includes the genetic histories of African Americans, Afro-Canadians, Afro-Caribbeans, Afro-Latinos, Afro-Europeans, Afro-Asians, and African Australians.
