Overview

Africans have the most diverse genomes of all human populations. However, only limited genomic studies from Africans are currently available to inform the development of disease prevention strategies, early detection tools, and treatment options. This trajectory is now changing, following several initiatives in Africa including the H3Africa. To date, there are many books on genomic studies globally but only a few are representative of the work that is being carried out in Africa and led by African researchers. This book provides insights on African genomics research into infectious diseases, cardiometabolic traits, cancer, mental health, pharmacogenomics, and metagenomics and reflects the broad experiences of researchers across Africa in ethics, biobanking, and capacity building for genomic studies. Key Features: • Covers the development of disease prevention strategies, early detection tools, and treatment options. • Offers an overview of the funding landscape and capacity-building efforts in Africa. • Provides a ten-year roadmap for research leaders, funders, and governments who are keen to plan for genomics work in Africa. • Reviews the translation of genomic studies from lab to real-world applications. • Discusses non-communicable diseases, infectious diseases, and mental illness.

Full Product Details

9781032547350

Table of Contents

Reviews

Author Information

Professor Segun Fatumo is a globally recognized genomic epidemiologist and statistical geneticist whose work is fundamentally changing the landscape of human genetics. He is the Professor and the Chair of Genomic Diversity at Queen Mary University of London and the Head of Non-Communicable Disease Genomics at the MRC/UVRI and LSHTM Uganda Research Unit. From these platforms, he leads one of the most ambitious cross-continental research programes in genomic science, placing African populations at the center of a global effort to make precision medicine work for everyone. His scientific mission is clear and urgent. For too long, the genetic architecture of disease has been studied almost exclusively in European-ancestry populations, producing tools, risk scores, and drug targets that serve a fraction of humanity. Professor Fatumo has spent more than two decades dismantling that imbalance. His research programe spans genome-wide association studies, multi-omics integration, polygenic risk score development, Mendelian randomization, and advanced computational genomics, all directed at uncovering the genetic determinants of non-communicable diseases in African and other under-represented populations. His deepest expertise lies in chronic kidney disease and cardiometabolic traits, areas where African populations carry a disproportionate disease burden and where genomic insight is most urgently needed. He holds a PhD in bioinformatics and trained as a postdoctoral researcher across three of the world’s leading institutions: the University of Georgia in the United States of America, the University of Cambridge, and the Wellcome Sanger Institute in the United Kingdom. That training gave him a command of both computational biology and large-scale population genomic epidemiology, a combination that has proved central to the breadth and rigor of his research programe. Professor Fatumo is Principal Investigator and director of KidneyGenAfrica- a pan-African partnership that delivers research and training excellence in genomics of kidney disease and decodes the genetic basis of chronic kidney disease across the continent. He leads BCX-Africa, xii About the Editors investigating blood cell trait genomics in African populations, and co-leads the Nigerian 100K Genome Project, a transformative effort to bring over 100,000 Nigerians into genomic research and map the genetic roots of the NCDs that disproportionately affect them. Professor Fatumo has been awarded multi-million-dollar research grants from the MRC, the NIH, and the Wellcome Trust and other leading grant agencies. More than that, Professor Fatumo’s research programes have built something durable: research infrastructure, training pipelines, and scientific communities across Africa that will generate discovery long after individual grants have closed. Capacity building is not peripheral to Professor Fatumo’s agenda. It is the agenda. He has been instrumental in establishing genomic research infrastructure where little previously existed, creating career pathways for early-career scientists, and embedding a culture of African scientific ownership across the continent’s emerging genomics ecosystem and building data and biobank resources. The next generation of African genomic scientists is being shaped, in no small part, by his direct investment in their training using rich African genome resources. His influence extends far beyond the research environment. A respected global science ambassador, Professor Fatumo has brought African genomics to audiences worldwide through features in the BBC, The Telegraph, WIRED, Science Magazine, and Forbes. He delivers keynote lectures at the world’s leading scientific conferences and serves as guests and associate editor for leading journals. He sits on the Scientific Advisory Boards of Genomics England, the Berlin Institute of Health at Charité, the GWAS Catalog, and GEN-Impact, where he provides strategic guidance on population diversity, data ethics, and the global implementation of genomic medicine. These are the rooms where the direction of the field is decided. He is in them, and he shapes what comes out. Professor Fatumo is a Fellow of the Higher Education Academy and teaches across multiple postgraduate programes in the UK and Africa. He supervises PhD researchers on both continents and leads genomic analysis workshops across Africa and the UK, training the scientists who will carry this field into its next chapter. The recognition is commensurate with the contribution. He is a Fellow of the African Academy of Sciences, one of the continent’s most prestigious scientific honors, awarded for sustained and outstanding contributions to research. He is also a recipient of the MRC Impact Prize, recognizing his leadership in advancing African representation in genomic research and his pioneering work on genetic risk prediction in African populations. Professor Fatumo co-edits this volume and co-authors two chapters. His presence in this book is, in many ways, a reflection of the field he has helped to build. Dr. Tinashe Chikowore is a distinguished scientist currently serving as an investigator in the Channing Division of Network Medicine and the Division of Genetics at Brigham and Women’s Hospital and as an Instructor of Medicine at Harvard Medical School. His path to becoming a leading voice in genomic research was forged through a dedication to bridging the gap in health equity for African populations. Dr. Chikowore holds a PhD in nutrition with a specialization in nutrigenetics. His interest in scientific inquiry was sparked during his undergraduate years at the University of Zimbabwe, where he was inspired by his lecturers in nutritional epidemiology. Initially balancing his academic pursuits with humanitarian relief work, he felt a strong calling to utilize data to address the vulnerabilities he witnessed in the field. This motivation led him to pursue advanced training, including a prestigious Wellcome Trust International Training Fellowship. During his doctoral and postdoctoral studies, he honed his expertise in laboratory techniques, statistics, and complex genetic concepts, largely within the framework of the Human Heredity and Health in Africa (H3Africa) consortium. Dr. Chikowore’s research program is at the forefront of the precision medicine revolution, specifically targeting the underrepresented populations of Africa. He focuses on the complex interplay between genetics, multi-omic profiles, diet, and environmental exposures to understand the risk of cardiometabolic diseases, such as obesity, type 2 diabetes, and hypertension. His work integrates genomics, proteomics, and metabolomics, utilizing advanced machine learning and data-driven approaches to unravel the heterogeneous effects of lifestyle factors, including socioeconomic status, sleep, exercise, and diet, on disease risk. A core component of his research involves evaluating polygenic risk scores (PRS) and their transferability across diverse African regions. Recognizing that most global genomic studies are predominantly based on European ancestry, Dr. Chikowore emphasizes that the lack of diversity in genomic data limits the accuracy of disease prediction for people of African descent. His research leverages expansive datasets from the H3Africa consortium, which has been critical in identifying population-enriched, clinically significant genetic variants. Dr. Chikowore’s work consistently demonstrates that increasing the representation of African individuals in genomic research is not just an issue of equity but a global scientific necessity that can lead to better diagnostic tools and more effective drug design for all populations. Dr. Chikowore’s intellectual contributions have been widely recognized in the scientific community. He is a recipient of the Charles Epstein Excellence in Human Genetics Award from the American Society of Human Genetics, honored for an outstanding abstract presented during a plenary session. His pioneering work, particularly on the transferability of genetic risk scores and xiv About the Editors the development of PRS for type 2 diabetes in African populations, has been published in high-impact journals, including Nature Medicine and Diabetes Care. He is actively supported by competitive funding, including grants from the National Institutes of Health (NIH) and the American Diabetes Association (ADA). Notably, he is an ADA Accelerator Award recipient under the “Pathway to Stop Diabetes” program, a testament to his potential to impact the future of diabetes prevention through AI and culturally sensitive, data-driven approaches. Beyond his laboratory and clinical research, Dr. Chikowore is a committed leader dedicated to strengthening the genomic research infrastructure across Africa. He serves as the chairperson of the H3Africa Cardiovascular Working Group and holds positions on the executive steering committees of H3Africa and the Data Science for Health Discovery and Innovation in Africa (DSI-Africa) initiative. These roles place him at the center of efforts to foster international collaborations and enhance data science capacity on the continent. Dr. Chikowore is deeply committed to mentorship, actively guiding underrepresented postdoctoral fellows and PhD students through weekly journal clubs and individual mentorship meetings. He also contributes to the global scientific community by teaching international courses led by the Wellcome Trust Connecting Science initiative in Asia and Africa. Further¬more, he serves as an ad hoc reviewer for major funding agencies, including the Wellcome Trust and the ADA, and contributes to scientific literature as a topical review editor for Frontiers in Genetics. Through his multifaceted roles, Dr. Chikowore continues to advocate for a more inclusive scientific landscape, ensuring that Africa’s unique genetic diversity is fully harnessed to advance global health.

Tab Content 6

Countries Available