The Genetics of African Populations in Health and Disease

The birthplace of modern humans, Africa, has the highest genetic diversity in the world, yet it remains vastly understudied. With biomedical research increasingly focused on human variation, studying the large population size and number of mutations in African genomes could unravel the complexity of phenotypic traits underlying the biology of our species and hold huge potential for scientific and medical advances. An initial chapter 'conceptualizes Africa', providing relevant terminology. The first section covers genetic history and population structure. The next section looks at the genetic basis of common infectious diseases, such as leishmaniasis, malaria and tuberculosis, with a final part considering common non-communicable diseases, such as diabetes, hypertension, obesity, heart disease and cancer. Gene environment interaction under globalization and the burden of diseases of lifestyle are included. For researchers and graduate students in biological anthropology, genetic anthropology, human and population genetics, and public health.

1. Reflections on conceptualizing Africa for biological studies with a historical component: a small essay Shomarka Omar Y. Keita; 2. History and genetics in Africa: multidisciplinary efforts Shomarka Omar Y. Keita and Muntaser E. Ibrahim; 3. Disease, selection, and evolution in the African landscape Muntaser Ibrahim and Endashaw Bekele; 4. Genetic susceptibility to visceral leishmaniasis Hiba S. Mohamed, Muntaser E. Ibrahim and Jenefer M. Blackwell; 5. Genetics of infection in Sub-Saharan Africa: what can the study of Mendelian immunodeficiency disorders contribute? Melanie Newport; 6. Pharmacogenomics and infectious diseases in Africa: an evolutionary perspective Jennifer L. Baker, Daniel Shriner, Amy R. Bentley and Charles N. Rotimi; 7. A glimpse into pharmacogenomics in Africa Collet Dandara and Alice Matimba; 8. Genomics of cardiometabolic disorders in Sub-Saharan Africa Sally N. Adebamowo, Fasil Tekola-Ayele, Adebowale A. Adeyemo and Charles N. Rotimi; 9. Breast cancer in African populations Konduru S. Sastry and Lotfi Chouchane; 10. Socio-biological transition and cancer: prospects for Africa Sulma Mahmoud, Khalid O. Alfarouk, Ahmed M. Elhassan, Kamal Hamad and Muntaser E. Ibrahim; 11. The genetic epidemiology of orphan diseases in North Africa Lilia Romdhane, Olfa Messaoud, Rym Kefi, Afaf Tiar, Ahlem Amouri, Mourad Mokni, Neji Tebib, Mohamed Zghal, Abdelhamid Barakat, Ahmed Houmeida, Mariem Bozguiya, Mohamed Othman, Ghada El Qameh and Sonia Abdelhak; 12. Birth defects and genetic disease in Sub-Saharan Africa Ambroise Wonkam; 13. Neurogenetic disorders in Africa: hereditary spastic paraplegia: a case study Liena E. O. Elsayed, Ammar E. M. Ahmed and Giovanni Stevanin.

Muntaser E. Ibrahim is a Professor at the Department of Molecular Biology, Institute of Endemic Diseases at the University of Khartoum, Sudan. He established the Unit of Diseases and Diversity at the University in 1998. He is a founding member of the African Society of Human Genetics and, in 2014, won the CNR Rao Prize for Scientific Research.
Charles Rotimi is the Chief of the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch and the Director of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute (NIH), Maryland. He was founding president of the African Society of Human Genetics and spearheaded formation of the H3Africa Initiative.