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GWAS: The Rise of Hypothesis-Free Biomedical Science

  • ID: 3504088
  • Book
  • August 2016
  • Region: Global
  • 304 Pages
  • Elsevier Science and Technology
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GWAS: The Rise of Hypothesis-Free Biomedical Science: Could Genome-Wide Association Studies (GWAS) Transform Modern Medicine? focuses on the ideas that surround genome-wide association studies. Starting with the Human Genome Project in 2000, this book discusses how GWAS are finding the genes that underlie diseases by applying novel technologies and hypothesis-free science.

Every new piece of information or technology has reshaped and changed the ideas addressed, leading to improved studies. In addition, the book also tracks down how results were generated and gathered, and the unique picture they are generating in our understanding of the genetic basis of human disease.

The central theme of the book focuses on the development of ideas starting from The Human Genome Project in 2000, as they continually evolve in response to the results obtained through the application of GWAS on real data. While short, this book will guide readers through the turbulent and exciting history that has transformed biomedical science from the inside out.

- Offers a knowledgeable review of the field in a longitudinal way, focusing on how to map a gene's underlying diseases using novel technologies- Presents key additional information, discoveries, and technological progress, year-by-year, starting from The Human Genome Project in 2000- Offers the greatest possible understanding of GWAS' history and development in a concise format- Provides the minimum essential technical knowledge that is necessary to understand the ideas behind GWAS
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Chapter 1: Genome-Wide Association Studies (GWAS): a Novel, Hypothesis-Free Approach to Biomedical Research
Chapter 2: Elementary Concepts in Human Genetics and Biomedicine Required to Understand the Idea of GWAS
Chapter 3: Human Genetic Variation and its Role in Human Disease
Chapter 4: The Human Genome Project and its Implications for Future Biomedical Research
Chapter 5: Genetic Structure of Human Populations and the "HapMap Project"
Chapter 6: Predicting Genetic Architecture of Human Complex Traits and Common Diseases
Chapter 7: Developing Large Biobanks and Rethinking Ethical Aspects of Human Genetic Research
Chapter 8: The First, Unsuccessful Wave of GWAS based on STR Marker Screens
Chapter 9: Turning to Industry for Help: the Emergence of Affymetrix, Inc. and Illumina, Inc.
Chapter 10: The Promise of GWAS is Fulfilled: the "Brave New World" Study
Chapter 11: The Second, Successful Wave of GWAS based on SNP Marker Screens
Chapter 12: Forming Massive International Collaborations to Increase Power of GWAS
Chapter 13: Assigning Biomedical Role to Human Genes: An Explosion of Technology-Driven Knowledge Discovery
Chapter 14: Increasing Resolution: Exome Sequence and Whole-Genome Sequence
Chapter 15: Why is "the Missing Heritability" Still Missing?
Chapter 16: The Emergence of Multiple "-omics" Universes and Limits to Hypothesis-Free Science
Chapter 17: The Future of GWAS: a Vision of Personalized Medicine
for Everyone
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Rudan, Igor

Global Health

Since March 2001, I have been working together with Professor Harry Campbell as a Technical Expert within the Child Health Epidemiology Reference Group (CHERG) of the World Health Organisation and UNICEF. Dr Campbell and I have led several large international projects, some funded by the Bill and Melinda Gates Foundation, that helped to reduce global mortality from pediatric infectious diseases, particularly childhood pneumonia and neonatal sepsis. Through our global health policy work we contributed to reduction of global child mortality (UN's Millennium Development Goal 4) from 12 million (in 2000) to under 7 million (in 2010). Working as a consultant for Child Health and Nutrition Research Initiative (CHNRI) of the Global Forum for Health Research and funded mainly by the World Bank, I developed a systematic methodology for setting priorities in global health research investments (the CHNRI methodology), which has been implemented by the World Health Organization and several national governments to identify research priorities to reduce global child mortality, resulting in more than 20 reports in leading international health journals ("The Lancet" and "PLoS Medicine").

Genetic Epidemiology

Since 1999 I have been developing the biobank called "10,001 Dalmatians" in a series of genetic isolate islands off the coast of Dalmatian region in Croatia. In collaboration with co-Principal Investigators Professors Harry Campbell, Alan Wright and Nick Hastie, we obtained support in excess of GBP 15 million to explore the genetic architecture of complex quantitative biological traits that underlie common late-onset diseases of public health importance. Since 2006, we published more than 150 original research papers, 30 of which in the leading journals in the field - "Nature" or "Nature Genetics". We assigned function to more than 500 human genes to date, discovering genetic variants that underlie gout, coronary heart disease, diabetes type 2, chronic kidney disease, lung function, human height, weight and body mass index, blood pressure, blood lipid and glucose levels, blood clotting factors, uric acid levels, age at menarche and menopause, ECG traits, eye, behaviour and sleep-related traits, predisposition to smoking, "-omics" biochemical traits (such as glycomics and lipidomics), and many others. We are currently applying whole-genome sequencing technologies in search for rare genetic variants with large influence on human traits and diseases. I am currently developing a large biobank in low and middle income countries in collaboration with the World Health Organization, that will focus on genetic determinants of maternal and newborn health - "Generation 2015".

Campbell, Harry
Co-Director of Centre for Global Health Research, MBChB course, Co-Director WHO Collaborating Centre for Population Health Research and Training, Programme lead for public health, Research Governance Committee, NHS Lothian
Polasek, Ozren
Med-Info Consulting Ltd, Split, Croatia
Prokopenko, Inga
Senior Lecturer in Human Genomics, Faculty of Medicine, School of Public Health, Imperial College London, London, UK
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