Human Genetics Introduction
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| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 128 |
| Release | : 1988-01-01 |
| Genre | : Science |
| ISBN | : 0309038405 |
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
| Author | : Jack J. Pasternak |
| Publisher | : John Wiley & Sons |
| Total Pages | : 656 |
| Release | : 2005-06-14 |
| Genre | : Science |
| ISBN | : 047171917X |
An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.
| Author | : Ricki Lewis |
| Publisher | : Garland Science |
| Total Pages | : 201 |
| Release | : 2010-10-06 |
| Genre | : Science |
| ISBN | : 0203840585 |
Human genetics has blossomed from an obscure branch of biological science and occasional explanation for exceedingly rare disorders to a field all of its own that affects everyone. Human Genetics: The Basics introduces the key questions and issues in this emerging field, including: The common ancestry of all humanity The role of genes in sickness and health Debates over the use of genetic technology Written in an engaging, narrative manner, this concise introduction is an ideal starting point for anyone who wants to know more about genes, DNA, and the genetic ties that bind us all.
| Author | : The Royal Society |
| Publisher | : National Academies Press |
| Total Pages | : 239 |
| Release | : 2021-01-16 |
| Genre | : Medical |
| ISBN | : 0309671132 |
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 348 |
| Release | : 2000-12-21 |
| Genre | : Nature |
| ISBN | : 0309070864 |
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.
| Author | : Leon E. Rosenberg |
| Publisher | : Academic Press |
| Total Pages | : 447 |
| Release | : 2012-05-21 |
| Genre | : Science |
| ISBN | : 0123852137 |
In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor's office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. - Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease - Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more - Explores ethical, legal, regulatory and economic aspects of genomics in medicine - Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics
| Author | : Ricki Lewis |
| Publisher | : McGraw-Hill Science, Engineering & Mathematics |
| Total Pages | : 439 |
| Release | : 2004-02 |
| Genre | : Science |
| ISBN | : 9780072951745 |
Human Genetics, 6/e is a non-science majors human genetics text that clearly explains what genes are, how they function, how they interact with the environment, and how our understanding of genetics has changed since completion of the human genome project. It is a clear, modern, and exciting book for citizens who will be responsible for evaluating new medical options, new foods, and new technologies in the age of genomics.
| Author | : Heike I. Petermann |
| Publisher | : Springer |
| Total Pages | : 562 |
| Release | : 2017-05-10 |
| Genre | : Medical |
| ISBN | : 331951783X |
Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.
| Author | : Bruce R. Korf |
| Publisher | : John Wiley & Sons |
| Total Pages | : 280 |
| Release | : 2012-11-19 |
| Genre | : Medical |
| ISBN | : 1118537661 |
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
| Author | : Jurg Ott |
| Publisher | : JHU Press |
| Total Pages | : 418 |
| Release | : 1999-04-16 |
| Genre | : Medical |
| ISBN | : 9780801861406 |
Introduction and basic genetic principles; Genetic loci genetic polymorphisms; Aspects of statistical inference; Basics of linkage analysis; The informativeness of family data; Multipoint linkage analysis; Penetrance; Quantitative phenotypes; Numerical and computerized methods; Variability of the recombination fraction; Inconsistencies; Linkage analysis with mendelian disease loci; Nonparametric methods; Two-locus inheritance; Complex traits.
