Formation | 2003 |
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Fields | |
President | Ambroise Wonkam |
Website | www |
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.
As the origin of Homo sapiens , Africa is home to the widest array of human genetic diversity. The continent also has a high disease burden. Despite these factors, genetic research on the continent was inadequate, and no existing organization was sufficiently dedicated to the task. Holding its inaugural conference in Accra, Ghana, the Society was founded in 2003 to increase research capacity in Africa, support African researchers, and improve research of African people. Since then, it and its flagship project (H3Africa) have been important factors in the growth of genomic research in Africa.
Though Africa is home to the widest range of human genetic variation, it trails the West in biomedical research and many of its countries do not have departments of human genetics. The AfSHG was established in 2003 to give African scientists and policymakers the knowledge and infrastructure to contribute to genomic research, to promote African researchers internationally, and to "foster genetics research in Africa to generate knowledge for the prevention of disease and the promotion of health." [1] It also aims to create national-level human genetics societies, and to provide an environment where African scientists can network and collaborate. [2]
The AfSHG was created to fill a gap in the research of human genetics in Africa. Most training in genomics and bioinformatics was concentrated in a few institutions and depended heavily on expertise from European and American researchers; many Africans who completed graduate training abroad returned to find their homelands had little infrastructure or funding for them to continue research. [3] Scientists decided that no other organization or conference was capable of addressing the need for better genetic, genomic, and biomedical research on the continent, nor to address its lack of research capacity. [4] The Society was established in 2003, with Charles Rotimi elected as its first president. [4] [5] Its inaugural conference was held on December 8–9 in Accra, Ghana and was supported by a grant written by Rotimi, Clement Adebamowo, and Adebowale Adeyemo; the inaugural theme was "Biomedical Research in Africa with Emphasis on Genetics." [4]
Since its inception, the AfSHG has been involved in creating national-level societies and coordinating international projects. The fifth meeting was held in Cairo, Egypt in 2007, jointly with the first meeting of the National Society of Human Genetics of Egypt (NSHG); here, the Society proposed the project that eventually became H3Africa. [6] The sixth meeting, held in 2009 in Yaoundé, Cameroon inaugurated the Cameroonian Society of Human Genetics (CSHG). [6] By this time, the AfSHG had over 400 members from 24 countries (16 in Africa, 8 elsewhere). [7] The Society established working groups on communicable and non-communicable diseases, to be led respectively by Sekou F. Traore and Bongani Mayosi. [4] After the meeting, Philip Mjwara, the Director General of South Africa's Department of Science and Innovation, urged the Southern African Society of Human Genetics (SASHG)—which had existed since 1986 [2] —to affiliate itself with the AfSHG. [6]
The seventh meeting was held in Cape Town in 2011, jointly with the SASHG. Introduced with talks by Rotimi and Michèle Ramsay, it focused on the importance of studying genetic diversity in Africans and its relationship to disease predisposition, and how to carry out such studies on the continent. [8] The ninth meeting, held in Dakar, Senegal in 2016, led to the creation of the Senegalese Society of Human Genetics (S2HG). [2] It was the first AfSHG meeting to be held in an exclusively francophone nation, marking an important milestone—Senegal, along with 12 other African nations, uses French in academia. [2]
The AfSHG returned to Cairo for its meeting 2017. The main conclusion was that researchers need to increase efforts to close the research gap between Africa and other continents; [9] each year, brain drain costs the continent about 20,000 scientists to higher-income countries. Stopping this would require reinforcing and expanding existing infrastructure and research capacity and creating local opportunities. [9] At the following conference, held in Kigali, Rwanda in 2018, the Society again emphasized the importance of developing infrastructure and resources through local government investment and increased collaboration between institutions across Africa. [10]
By 2021, the AfSHG was one of the driving factors in the growth of genomics in Africa. [11] Though the continent had developed a strong core of genomics professionals, researchers echoed calls for increased funding from within Africa from philanthropic, public, and private sectors, and for increased investment in health care systems for translational research. [11] Its president, Ambroise Wonkam, also proposed that the Society's next major scientific initiative should be to sequence three million African genomes—the Three Million African Genomes (3MAG) Project—to cover the spectrum of human genetic variation in Africa. [12] The organization called for an end to racism in science in August 2022 stating that "Black Lives Matter and Black Research Matters". [13] In particular, it called for an end to helicopter research in African genomics and for more African-led and -funded research. [13]
During the meeting in Cairo in 2007, the membership agreed the AfSHG should spearhead an African Genome Project (AGP); the keynote speech, titled "Africa and the Genome Revolution" was given by Francis Collins, who was one of the leaders of the Human Genome Project. [4] The AGP would have four components: population genetics, medical genetics, training, and infrastructure. Among its goals, it would sample at least 100 ethnic groups from the continent, develop large-scale resource to study gene-environment interplay of diseases in Africa, train African scientists, and establish laboratories and local research capacity. [4] At the 2009 meeting in Yaoundé, the AGP concept was renamed "Human Heredity and Health in Africa" (H3Africa) to reflect its goals and scope. [4]
The United States' National Institutes of Health (NIH) and the United Kingdom's Wellcome Trust announced initial funding for H3Africa in London in 2010. [4] Following AfSHG deliberations in 2011 at Yaoundé and Oxford, researchers released the H3Africa white paper. [14] As part of the initiative, the AfSHG would develop a database of all universities, institutions, and scientists working on human genetics in Africa. [15] The first H3Africa investigators met in 2012 in Addis Ababa, Ethiopia. [4] The initiative has since created numerous biobanks and repositories, bioinformatics hubs, and training programs in human genetics. [3]
By 2020, H3Africa had published its milestone paper in Nature —a whole genome analysis of 426 individuals from 50 ethnolinguistic groups in Africa, including previously unsampled populations [16] —and about 300 other manuscripts describing new data and results. [17] The paper was a major step for African genomics: it uncovered millions of new genetic variants, and most of its authors were based in African institutions. [18]
No. | Host city | Country | Year | Theme | Ref. |
---|---|---|---|---|---|
1 | Accra | Ghana | 2003 | Biomedical Research in Africa with Emphasis on Genetics | [21] |
2 | Washington, D.C. | USA | 2004 | Sustaining the African Society of Human Genetics | [21] |
3 | Johannesburg | South Africa | 2005 | Human Genetic Variation in Africa | [21] |
4 | Addis Ababa | Ethiopia | 2006 | Human Genetic Variation and Disease | [21] |
5 | Cairo | Egypt | 2007 | Genomics Research in Africa: Implications for Disease Diagnosis, Treatment and Drug Development | [21] |
6 | Yaoundé | Cameroon | 2009 | Human Origin, Genetic Diversity and Health | [21] |
7 | Cape Town | South Africa | 2011 | Building Capacity for Genomic and Translational Research in Africa | [21] |
8 | Accra | Ghana | 2013 | Advancing Genomic Research in Africa: A Joint Conference of the AfSHG and H3Africa Consortium | [21] |
9 | Dakar | Senegal | 2016 | Strengthening Human Genetics Research in Africa | [21] |
10 | Cairo | Egypt | 2017 | Human Genetics and Genomics in Africa: Challenges for Both Rare and Common Genetic Disorders | [21] |
11 | Kigali | Rwanda | 2018 | Building skills and resources for genomics, epigenetic and bioinformatics research in Africa | [21] |
12 | Bamako | Mali | 2019 | Genetics and Human Genomics as a Unifying factor for Harmony and Progress in Africa | [22] |
13 | Dar es Salaam | Tanzania | 2021 | Genomics and translational research to improve health in Africa | [21] |
14 | Rabat | Morocco | 2022 | Applications of Genomic Medicine in Africa | [23] |
In genetics and bioinformatics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population.
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.
Mouse Genome Informatics (MGI) is a free, online database and bioinformatics resource hosted by The Jackson Laboratory, with funding by the National Human Genome Research Institute (NHGRI), the National Cancer Institute (NCI), and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). MGI provides access to data on the genetics, genomics and biology of the laboratory mouse to facilitate the study of human health and disease. The database integrates multiple projects, with the two largest contributions coming from the Mouse Genome Database and Mouse Gene Expression Database (GXD). As of 2018, MGI contains data curated from over 230,000 publications.
David Haussler is an American bioinformatician known for his work leading the team that assembled the first human genome sequence in the race to complete the Human Genome Project and subsequently for comparative genome analysis that deepens understanding the molecular function and evolution of the genome.
Himla (Himladevi) Soodyall is a South African geneticist involved in finding some of the oldest human genetic lines, mainly focusing on Sub-Saharan Africa. Her work on DNA has pointed to southern Africa as the most likely geographic region of origin of the human species.
The International Mammalian Genome Society (IMGS) is a professional scientific organization that promotes and coordinates the genetic and genomic study of mammals. It has a scientific journal, Mammalian Genome, and organizes an annual international meeting, the International Mammalian Genome Conference (IMGC).
The Personal Genetics Education Project (pgEd) aims to engage and inform a worldwide audience about the benefits of knowing one's genome as well as the ethical, legal and social issues (ELSI) and dimensions of personal genetics. pgEd was founded in 2006, is housed in the Department of Genetics at Harvard Medical School and is directed by Ting Wu, a professor in that department. It employs a variety of strategies for reaching general audiences, including generating online curricular materials, leading discussions in classrooms, workshops, and conferences, developing a mobile educational game (Map-Ed), holding an annual conference geared toward accelerating awareness (GETed), and working with the world of entertainment to improve accuracy and outreach.
In bioinformatics, a Gene Disease Database is a systematized collection of data, typically structured to model aspects of reality, in a way to comprehend the underlying mechanisms of complex diseases, by understanding multiple composite interactions between phenotype-genotype relationships and gene-disease mechanisms. Gene Disease Databases integrate human gene-disease associations from various expert curated databases and text mining derived associations including Mendelian, complex and environmental diseases.
Michèle Ramsay is a South African Professor of human genetics at the National Health Laboratory Service and the University of the Witwatersrand. Ramsay's research has investigated single-gene disorders, epigenetics, obesity and hypertension. She was the President of the African Society of Human Genetics from 2014 until 2019.
Sarah Anne Tishkoff is an American geneticist and the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. She also serves as a director for the American Society of Human Genetics and is an associate editor at PLOS Genetics, G3, and Genome Research. She is also a member of the scientific advisory board at the David and Lucile Packard Foundation.
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.
Charles Nohuoma Rotimi is the Scientific Director of the National Human Genome Research Institute (NHGRI). He joined the National Institutes of Health (NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in Genomics and Global Health and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that population genetics include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the Human Heredity and Health in Africa (H3Africa) with the NIH and the Wellcome Trust. He was elected to the National Academy of Medicine in 2018.
Charmaine DM Royal is an American geneticist and Associate Professor at the Institute for Genome Sciences & Policy and the Department of African and African American Studies at Duke University. She studies the intersections of race, ethnicity, ancestry genetics, and health, especially as they pertain to historically marginalized and underrepresented groups in genetic and genomic research; and genomics and global health. Her major interest is in addressing root causes and implementing sustainable solutions regarding problems of race and racism in research, healthcare, and society. Royal is a Human Heredity and Health in Africa (H3Africa) Independent Expert Committee (IEC) member appointed by the National Institutes of Health (NIH) and is a 2020 Ida Cordelia Beam Distinguished Visiting Professor at the University of Iowa.
Human Heredity and Health in Africa, or H3Africa, is an initiative to study the genomics and medical genetics of African people. Its goals are to build the continent's research infrastructure, train researchers and clinicians, and to study questions of scientific and medical interest to Africans. The H3Africa Consortium was formally launched in 2012 in Addis Ababa and has grown to include research projects across 32 countries, a pan-contintental bioinformatics network, and the first whole genome sequencing of many African ethnolinguistic groups.
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.
Christian Happi is a Professor of Molecular Biology and Genomics in the Department of Biological Sciences and the Director of the African Centre of Excellence for Genomics of Infectious Diseases, both at Redeemer’s University. He is known for leading the team of scientists that used genomic sequencing to identify a single point of infection from an animal reservoir to a human in the Ebola outbreak in West Africa. His research focus is on infectious diseases, including malaria, Lassa fever, Ebola virus disease, HIV, and SARS-CoV-2.
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.
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.
Adebowale A. Adeyemo is a Nigerian physician-scientist and genetic epidemiologist specialized in genomics and cardiometabolic disorders. He is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute.
Alan Christoffels is a bioinformatics scientist, academic, and an author. He is Professor of Bioinformatics, and the director of the South African National Bioinformatics Institute at the University of the Western Cape. He has been serving as a senior advisor to the Africa Centres for Disease Control and Prevention Pathogen genomics & Partnerships and DSI/NRF Research Chair in Bioinformatics and Public Health Genomics.
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