Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community

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Publisher : Dr. Spineanu Eugenia
ISBN 13 :
Total Pages : 113 pages
Book Rating : 4./5 ( download)

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Book Synopsis Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community by : Dr. Spineanu Eugenia

Download or read book Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community written by Dr. Spineanu Eugenia and published by Dr. Spineanu Eugenia. This book was released on 2024-07-01 with total page 113 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community" is an extensive treatise delving into the intricate dimensions of Achondroplasia. This comprehensive work serves as an illuminating guide, offering an in-depth understanding of the genetic underpinnings, medical intricacies, and holistic aspects surrounding this condition. Within its pages, readers embark on a journey through the historical context and definition of Achondroplasia, tracing its genetic origins and modes of inheritance. The treatise meticulously unravels the mysteries of the FGFR3 gene mutations, shedding light on their impact on skeletal development and growth regulation. Each chapter navigates through epidemiological insights, unraveling prevalence statistics and global perspectives on Achondroplasia.

Bone Dysplasias

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Publisher : Oxford University Press, USA
ISBN 13 : 0190626658
Total Pages : 929 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

The Growth Plate

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Publisher : IOS Press
ISBN 13 : 9781586032401
Total Pages : 312 pages
Book Rating : 4.0/5 (324 download)

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Book Synopsis The Growth Plate by : Irving M. Shapiro

Download or read book The Growth Plate written by Irving M. Shapiro and published by IOS Press. This book was released on 2002 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Evidence generated by a number of genetic studies indicates that growth is regulated by a number of genes and that interference with their expression can have catastrophic effects on the well being of the whole organism. This work covers skeletal development and growth.

Autism and the Environment

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Publisher : National Academies Press
ISBN 13 : 0309108810
Total Pages : 358 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Autism and the Environment by : Institute of Medicine

Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.

Scientific Frontiers in Developmental Toxicology and Risk Assessment

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Publisher : National Academies Press
ISBN 13 : 0309070864
Total Pages : 348 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Scientific Frontiers in Developmental Toxicology and Risk Assessment by : National Research Council

Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Pediatric Board Study Guide

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Publisher : Springer
ISBN 13 : 3319101153
Total Pages : 611 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Pediatric Board Study Guide by : Osama Naga

Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.

Principles and Applications of Molecular Diagnostics

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Publisher : Elsevier
ISBN 13 : 0128160624
Total Pages : 424 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Principles and Applications of Molecular Diagnostics by : Nader Rifai

Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. - Explains the principles and tools of molecular biology - Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results - Provides a detailed description of current molecular applications used to solve diagnostics tasks

Uncommon Causes of Stroke

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Publisher : Cambridge University Press
ISBN 13 : 9780521771450
Total Pages : 418 pages
Book Rating : 4.7/5 (714 download)

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Book Synopsis Uncommon Causes of Stroke by : Julien Bogousslavsky

Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.

A Son of the Circus

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Publisher : Vintage Canada
ISBN 13 : 0307362000
Total Pages : 758 pages
Book Rating : 4.3/5 (73 download)

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Book Synopsis A Son of the Circus by : John Irving

Download or read book A Son of the Circus written by John Irving and published by Vintage Canada. This book was released on 2012-05-08 with total page 758 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Hindi film star and an American missionary are twins separated at birth; a dwarf — a former circus clown — mistakes the missionary for the movie star. And stalking one of them is a serial killer...

Pediatric Cancer Genetics

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Publisher : Elsevier Health Sciences
ISBN 13 : 0323495966
Total Pages : 135 pages
Book Rating : 4.3/5 (234 download)

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Book Synopsis Pediatric Cancer Genetics by : Nathaniel H. Robin

Download or read book Pediatric Cancer Genetics written by Nathaniel H. Robin and published by Elsevier Health Sciences. This book was released on 2017-08-22 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counsellors - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples - Consolidates today's available information and guidance in this timely area into one convenient resource - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. - Consolidates today's available information and guidance in this timely area into one convenient resource.

Human Genome Editing

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Publisher : National Academies Press
ISBN 13 : 0309452880
Total Pages : 329 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis Human Genome Editing by : National Academies of Sciences, Engineering, and Medicine

Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Smith's Recognizable Patterns of Human Malformation

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Publisher :
ISBN 13 :
Total Pages : 888 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Smith's Recognizable Patterns of Human Malformation by : Kenneth Lyons Jones

Download or read book Smith's Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.

Molecular Exercise Physiology

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Publisher : Routledge
ISBN 13 : 1351617001
Total Pages : 549 pages
Book Rating : 4.3/5 (516 download)

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Book Synopsis Molecular Exercise Physiology by : Adam P Sharples

Download or read book Molecular Exercise Physiology written by Adam P Sharples and published by Routledge. This book was released on 2022-05-11 with total page 549 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully revised and expanded, the second edition of Molecular Exercise Physiology offers a student-friendly introduction. It introduces a history documenting the emergence of molecular biology techniques to investigate exercise physiology, the methodology used, exercise genetics and epigenetics, and the molecular mechanisms that lead to adaptation after different types of exercise, with explicit links to outcomes in sport performance, nutrition, physical activity and clinical exercise. Structured around key topics in sport and exercise science and featuring contributions from pioneering scientists, such as Nobel Prize winners, this edition includes new chapters based on cutting-edge research in epigenetics and muscle memory, satellite cells, exercise in cancer, at altitude, and in hot and cold climates. Chapters include learning objectives, structured guides to further reading, review questions, overviews of work by key researchers and box discussions from important pioneers in the field, making it a complete resource for any molecular exercise physiology course. The book includes cell and molecular biology laboratory methods for dissertation and research projects in molecular exercise physiology and muscle physiology. This book is essential reading for upper-level undergraduate or postgraduate courses in cellular and molecular exercise physiology and muscle physiology. It is a valuable resource for any student with an advanced interest in exercise physiology in both sport performance and clinical settings.

Paediatrics at a Glance

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Publisher : John Wiley & Sons
ISBN 13 : 1118947800
Total Pages : 453 pages
Book Rating : 4.1/5 (189 download)

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Book Synopsis Paediatrics at a Glance by : Lawrence Miall

Download or read book Paediatrics at a Glance written by Lawrence Miall and published by John Wiley & Sons. This book was released on 2016-04-29 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Paediatrics at a Glance provides an introduction to paediatrics and the problems encountered in child health as they present in primary, community and secondary care, from birth through to adolescence. Thoroughly updated to reflect changes in understanding of childhood illness over the last 5 years, the 4th edition of this best-selling textbook diagrammatically summarises the main differential diagnoses for each presenting symptom, while accompanying text covers important disorders and conditions as well as management information. Paediatrics at a Glance: • Is an accessible, user-friendly guide to the entire paediatric curriculum • Features expanded coverage of psychological issues and ethics in child health • Includes more on advances in genetics, screening and therapy of childhood illness • Contains new videos of procedures and concepts on the companion website • Includes a brand new chapter on Palliative Care - an emerging area in the specialty • Features full colour artwork throughout • Includes a companion website at www.ataglanceseries.com/paediatrics featuring interactive self-assessment case studies, MCQs, videos of the procedures and concepts covered in the book, and links to online resources Paediatrics at a Glance is the ideal companion for anyone about to start a paediatric attachment or module and will appeal to medical students, junior doctors and GP trainees as well as nursing students and other health professionals.

Growth Hormone Resistance

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Publisher :
ISBN 13 : 9780702020933
Total Pages : 9 pages
Book Rating : 4.0/5 (29 download)

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Book Synopsis Growth Hormone Resistance by : Martin O. Savage

Download or read book Growth Hormone Resistance written by Martin O. Savage and published by . This book was released on 1996 with total page 9 pages. Available in PDF, EPUB and Kindle. Book excerpt: Examining growth hormone resistance, this text includes coverage of such topics as: growth hormone receptor signalling; metabolic actions of growth hormone - direct and indirect; and IGF bioactivity and its modification in growth hormone resistance in childhood.

Genetics and Genomics in Medicine

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Publisher : Taylor & Francis
ISBN 13 : 1317594304
Total Pages : 545 pages
Book Rating : 4.3/5 (175 download)

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Book Synopsis Genetics and Genomics in Medicine by : Tom Strachan

Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

The Genetic Gods

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Publisher : Harvard University Press
ISBN 13 : 0674020359
Total Pages : 289 pages
Book Rating : 4.6/5 (74 download)

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Book Synopsis The Genetic Gods by : John C. Avise

Download or read book The Genetic Gods written by John C. Avise and published by Harvard University Press. This book was released on 2009-06-30 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: They mastermind our lives, shaping our features, our health, and our behavior, even in the sacrosanct realms of love and sex, religion, aging, and death. Yet we are the ones who house, perpetuate, and give the promise of immortality to these biological agents, our genetic gods. The link between genes and gods is hardly arbitrary, as the distinguished evolutionary geneticist John Avise reveals in this compelling book. In clear, straightforward terms, Avise reviews recent discoveries in molecular biology, evolutionary genetics, and human genetic engineering, and discusses the relevance of these findings to issues of ultimate concern traditionally reserved for mythology, theology, and religious faith. The book explains how the genetic gods figure in our development--not just our metabolism and physiology, but even our emotional disposition, personality, ethical leanings, and, indeed, religiosity. Yet genes are physical rather than metaphysical entities. Having arisen via an amoral evolutionary process--natural selection--genes have no consciousness, no sentient code of conduct, no reflective concern about the consequences of their actions. It is Avise's contention that current genetic knowledge can inform our attempts to answer typically religious questions--about origins, fate, and meaning. The Genetic Gods challenges us to make the necessary connection between what we know, what we believe, and what we embody. Table of Contents: Preface Prologue 1. The Doctrines of Biological Science 2. Geneses 3. Genetic Maladies 4. Genetic Beneficence 5. Strategies of the Genes 6. Genetic Sovereignty 7. New Lords of Our Genes? 8. Meaning Epilogue Notes Glossary Index Reviews of this book: Our genes, [Avise] says, are responsible not only for how we got here and exist day to day, but also for the core of our being--our personalities and morals. It is our genetic make-up that allows for and formulates our religious belief systems, he argues. Avise does not eschew spirituality but seeks a more informed, less confrontational approach between science and the pulpit. --Science News Reviews of this book: For the general scientific reader, the book is an excellent distillation of a broad and increasingly important field, a course of causation that cannot be ignored. From advising expectant parents to getting innocent people off death row, genetics increasingly dominates our lives. The sections on genetics are expertly written, particularly for those readers without in-depth knowledge. The author explains slowly and carefully just how genetics operates, using multiple metaphors. His genetic discourse proceeds in a neighborly fashion, as one might tell stories while sitting in a rocking chair at a country store. He seems to be invigorated by genes and just can't wait to tell about them. --David W. Hodo, Journal of the American Medical Association Reviews of this book: As a whole, this book is quite informative and stimulating, and sections of it are beautifully written. Indeed, Professor Avise has a real gift for prose and scientific expositions, and I would suspect that he must be a formidable lecturer...At its core, [The Genetic Gods] is a survey, and a very nice one at that, of evolutionary genetics, the field of the author's major research interests. There is a strong sociobiological cast to the arguments, and the work and ideas of E. O. Wilson figure prominently. The presentation of evolutionary genetics is imbedded in a more general discussion of modern human and molecular genetics...However, this book is, most of all, a philosophical treatise that attempts, admittedly with the bias of a biologist, to examine the intersection of the fundamental premises of evolution and religion. Professor Avise has given us plenty to think about in this book [and]...it was a real pleasure to wrestle with the ideas he was presenting. I would suggest that other readers give it a try. --Charles J. Epstein, Trends in Genetics Reviews of this book: [Avise's] account of the role genes play in shaping the human condition is wholly involving, paying particular attention to issues of reproduction, aging and death. In addition to presenting ample biological information in a form accessible to the nonspecialist, Avise does a superb job of discussing many of the ethical implications that have arisen from our growing knowledge of human genetics. Just a few of the topics covered are genetic engineering, the patenting of life, genetic screening, abortion, human cloning, gene therapy and insurance-related controversies. --Publishers Weekly Reviews of this book: Avise explains thoroughly how evolution operates on a genetic level. His goal is to show that humans can look to this information as a way to answer fundamental questions of life instead of looking to traditional religious beliefs...Avise includes some very interesting discussions of ethical concerns related to genetic issues. --Eric D. Albright, Library Journal This is a splendid account of a subject that affects us all: the breathtaking increase in understanding of human genetics and the insight it provides into human evolution. John Avise speaks with authority of molecular evolutionary genetics and with affecting compassion of what it might mean. --Douglas J. Futuyma, State University of New York at Stony Brook The Genetic Gods is many things. It is a wonderful introduction to modern molecular biology, by a man who knows his subject backwards. It is a stimulating account of the ways in which genetics impinges on human nature--our thinking and our behavior. It is a remarkably level-headed and sympathetic account of the implications of our new findings for traditional and not-so-traditional issues in philosophy and religion. In an age of genetic counseling, cloning, construction of new life forms, the book is worth its weight in gold for this alone. But most of all, it is a huge amount of fun to read--you want to applaud or argue with the author on nigh every page. Highly recommended! --Michael Ruse, University of Guelph The Genetic Gods makes a valuable contribution to the on-going task of sorting out the implications of evolutionary biology and genetics for human self-understanding. Avise addresses, with authority and grace, the most consequential intellectual issues of our time. A challenging and insightful book. --Loyal Rue, Harvard University A wonderfully informative and engaging book. Avise offers a lucid, accessible primer on our genes, angelic and demonic, and examines religious and ethical issues, all too human, now confronted by genetic science. He makes a compelling case that anyone seeking to 'Know Thyself' should study the DNA molecular scriptures, our most ancient and universal legacy. --Dudley Herschbach, Harvard University, Nobel Laureate in Chemistry