Description
Human Genetics in Latin America is the first volume of a trilogy developed by the Latin American Network of Human Genetics (RELAGH) and the Latin American Academy of Sciences (ACAL) that addresses a major gap in global genomics. The book explores why studying genetic diseases in Latin American populations is both scientifically and medically essential, highlighting the region's extraordinary genetic diversity shaped by centuries of admixture among Indigenous, European, African, and Asian populations. Through contributions from leading researchers and clinicians, this volume examines population structure, founder effects, rare disorders, and complex diseases such as cancer, diabetes, neurological, and psychiatric conditions. It demonstrates how ancestry and admixture influence disease risk, clinical presentation, and treatment response. By placing Latin America at the center of genetic research, the book offers a timely framework for understanding human disease from a regional perspective with global relevance and for advancing more inclusive, equitable, and effective genomics and precision medicine worldwide.
1 Introduction.- 2 Evidence and Impact of Natural Selection in Latin American Populations.- 3 Hemoglobinopathies in Latin America.- 4 Founder Effect on Autosomal Dominant Limb-Girdle Dystrophy D3.- 5 Ancestral Genetic Origins of Huntington Disease and Huntington Disease-like 2 in Venezuela.- 6 Founder Effect and Geographic Isolation as a Frequent Cause of High Prevalence for Rare Diseases.- 7 Mucopolysaccharidosis Type VI and Other Genetic Disorders in a Rural Area of Bahia, Brazil.- 8 Genetic Isolates and Clusters of Genetic Disorders in Latin America.- 9 Common Germline Genetic Variation and Breast Cancer Risk in Women of Latin American Origin.- 10 The Genetics of Type 2 Diabetes in Latinos and Latin Americans.- 11 Genetics of Parkinson's Disease.- 12 Evolution of the Field of Psychiatric Genetics in Latin America.- 13 Insights into Focal Epilepsies.- 14 Leveraging Polygenic Risk Scores and Genome-Wide Association Studies for Precision Medicine in Admixed Latin American and Caribbean Populations.- 15 Pharmacogenetics and Pharmacogenomics in Latin American Populations.
Janet Hoenicka
Senior investigator and director of the Neurogenetics and Molecular Medicine Research Group at the Sant Joan de Déu Research Institute, and investigator of CIBERER, Spain. She graduated in Biology (Simón Bolívar University, Caracas, Venezuela) and she is Ph.D. in Biological Sciences (The Spanish Council for Scientific Research (CSIC) and the Autonomous University of Madrid). Since 2021, she is a member of the Latin American Academy of Sciences (ACAL), where she is coordinator of the Regional Integration Program in Human Genetics and its Application in Biomedicine in Latin America.
Mariela Larrandaburu
Medical geneticist specialized in clinical genetics, genetic epidemiology, and public health genomics. She is President of the International Federation of Human Genetics Societies (IFHGS) and the Latin American Network of Human Genetics (RELAGH, 2021-2023). She holds an MSc and PhD in Genetics and Molecular Biology, and a diploma in Human Genetics. She works at Uruguay's Ministry of Public Health, leading the Program on Genomic Medicine, Rare Diseases, and Congenital Anomalies, and spearheads awareness and educational initiatives on congenital anomalies, rare diseases, and disability. She conceived and coordinated the RNDCER (National Registry of Congenital Defects and Rare Diseases) and the Comprehensive Plan. She led a Mercosur regional strategy and collaborates with PAHO and WHO. She teaches at the Catholic University of Uruguay.
Mónica Sans
Full Professor and Senior Researcher at Udelar (Uruguay). Former Director of the Department of Biological Anthropology and member of the Council of the College of Humanities. She holds a degree in Anthropology and a Master's and PhD in Biological Sciences (PEDECIBA-Udelar). She is a founder and former President of the Uruguayan Society of Genetics and of the Latin American Association of Biological Anthropology, and Director of the Anthropology and Human Biology degree programs. She was awarded the For Women in Science Prize (L'Oréal-UNESCO).
Ricardo Verdugo
Director of the Biomedical Genomics Laboratory (GENOMED Lab) and Assistant Professor of Genetics at the University of Chile. He holds a degree in Veterinary Medicine (2001) and a Ph.D. in Genetics from the University of California, Davis (2007). He completed postdoctoral fellowships in computational biology at The Jackson Laboratory and in cardiovascular disease genomics at INSERM. He founded and spearheaded the ChileGenómico Project and academic networks such as U-Genoma, LatinGenomes, and LatinOMICS. He has served as director of the Chilean Genetics Society, a member of international genomics committees, and a member of the editorial board of Human Genetics.
Henriette Raventós
Senior investigator at the Cell and Molecular Biology Research Centre and full professor at the School of Biology of the University of Costa Rica. Medical doctor by training, with a master's degree in biochemistry, and a postdoctoral fellowship in Human Genetics at UC Berkeley. Since 1997, she directs the Neuropsychiatric Genetics research laboratory at the University. She is also part of several regional and global networks and scientific societies in Human Genetics and is consulted on science policy and diplomacy, disability rights and bioethics by international organizations.
