Population Genomics in the Developing World

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.

• 1. Population genomics - The fundamentals2. Why focus on population genomics in developing countries?3. Contribution of large consortia studies to population genomics in the developing world: Examples from Africa and South Asia4. Implementing genomics research in developing countries: Common challenges, and emerging solutions5. Next-generation sequencing technologies: Implementation in developing countries6. Computational disease-risk prediction: Tools and statistical approaches7. Genotype versus phenotype versus environment8. Implementing population pharmacogenomics: Tailoring drug therapy for diverse populations9. Direct-to-consumer (DTC) genetic testing and the population genomics industry10. Clinical translation of genomics research in Africa - Mainstreaming medical ethics, equity, genetics education, and public engagement11. The future of population genomics in developing countries

"...addresses that topic head-on, delving into strategies, methods and results of population genomic studies in the developing world. [Its] purpose is to introduce researchers and clinicians to population genomics in the developing world. Through discussions of the current state of the field and outlining the skills and approaches necessary for these studies, the book aims to illustrate the challenges and opportunities of population studies in developing countries. In addition, it seeks to address the need for a broader perspective in population genomics.... [It] is extraordinarily successful in providing the information and practical knowledge needed for work by the intended audience in the developing world,... benefits from clear writing and from the practical experience of the authors in the matters they discuss.... an excellent place for those interested in this aspect of the field to get their start, recommend[ed] to those interested in a more complete understanding of the origins, evolution, and composition of the human genome." ©Doody's Review Service, 2025, Mark Sanders, PhD (UC Davis College of Biological Sciences)