Population Genomics in the Developing World: Concepts, Applications, and Challenges

Population Genomics in the Developing World: Concepts, Applications, and Challenges, a new volume in the Translational and Applied Genomics series, provides a comprehensive, up-to-date summary of the field of population genomics in developing countries. This book equips students, researchers, and clinicians with the practical skills and approaches necessary to face the unique challenges and opportunities of practicing population genomics in developing countries. Following a brief foundational overview, more than a dozen authors working in developing nations share applied case studies from the field, including rationale, methods, analysis, and outcomes to reinforce understanding. Key themes across the country-specific chapters include efficient genetic data generation and effective computational and statistical tools to analyze population-level data. This book then discusses clinical interpretation of these data, from direct-to-consumer ancestry testing to translational and applied precision medicine. A final chapter considers the ethical aspects of conducting genomic research in developing countries.

• Addresses the unique opportunities to positively impact global health by practicing population genomics in developing countries
• Features applied case studies from genomic research in various developing nations, with clear instruction in research rationale, methods, tools, materials used, analysis, and outcomes
• Features international chapter authors and population genomics experts practicing in South Africa, Gabon, India, South America, Central America, and Honduras, among other locations

Dr. Marlo Möller's primary research focuses on finding the genetic underpinnings of tuberculosis (TB). She developed an interest in this field at the beginning of her postgraduate degrees and continued this focus throughout her postdoctoral studies. She is currently an Associate Professor at Stellenbosch University, in Stellenbosch, South Africa. Her investigations into the genetic contribution of the human host to individual and population susceptibility to tuberculosis include tuberculous meningitis, tuberculosis resisters, the role of ancestry in tuberculosis disease, and primary immunodeficiencies. Dr. Möller's work leverages the complex ancestry of the admixed people in South Africa, specifically the unique genetic contribution from hunter–gatherer ancestry, to find novel genes and pathways involved in TB resistance and susceptibility.

Dr. Caitlin Uren currently works in the fields of human population genetics, bioinformatics, and communicable and noncommunicable diseases. Her initial research focused on identifying and characterizing genetic population structure in southern African human populations. This information was then used in the development of novel computational pipelines. In addition, she has been involved in the analysis of next-generation sequencing data with the goal to provide a molecular diagnosis to patients with suspected genetic disorders. She is currently involved in numerous projects that encompass data repositories, bioethics, bioinformatics, pharmacogenetics, and population genetics. As an early-career researcher, it is her goal to further the human genetics field in Africa and to teach and guide the next generation of scientists.

George P. Patrinos is a Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, and Head of Division of Pharmacology and Biosciences of the same department and holds adjunct Full Professorships at Erasmus MC, Faculty of Medicine, and Health Sciences, Rotterdam (the Netherlands), and the United Arab Emirates University, College of Medicine, Department of Genetics and Genomics, Al-Ain (UAE). Also, from 2018 until the end of 2024, he was Chair of the Global Genomic Medicine Collaborative (G2MC). He served 12.5 years as a full member and Greece’s National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA). George has more than 340 publications in peer-reviewed scientific journals, some of them in leading scientific journals, such as The Lancet, Nature Genetics, Nature Reviews Genetic, Nucleic Acids Research, Genes & Development. He has also coauthored and coedited more than 15 textbooks, among which the renowned textbook Molecular Diagnostics, published by Academic Press, now in its 3rd edition, while he is the editor of Translational and Applied Genomics book series, published by Elsevier. Furthermore, he serves as the Editor-In-Chief of the prestigious Pharmacogenomics Journal (TPJ), published by Nature Publishing Group, Associate Editor, and member of the editorial board of several scientific journals, and advisory and evaluation committees. Apart from that, George is the main coorganizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine with more than 50 conferences organized in more than 25 countries worldwide.