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Genetics of Complex Human Diseases

Author : Ammar Al-Chalabi

Publisher :

Page : 0 pages

File Size : 45,40 MB

Release : 2009

Category : Medical genetics

ISBN : 9780879698829

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Book Description

Many human diseases – including Alzheimer's disease, schizophrenia, cancer, and cardiovascular disease – have complex genetics that require sophisticated analysis. Genetics of Complex Human Diseases: A Laboratory Manual& brings together the tools that geneticists use to find disease genes with the genetic concepts and statistical theories that underpin these research approaches. Topics covered include basic genetics and Mendelian inheritance, statistical methods, genetic epidemiology, linkage studies, transmission disequilibrium test analysis, variance components analysis, genome-wide association studies, copy-number variation, methods for high-throughput genotyping, the complexity of RNA editing, and genetic computer programs. The book's chapters, written by leading investigators in the field, blend practical information and reviews of each topic, providing both the how and the why of complex disease analysis. Genetics of Complex Human Diseasesis an important guide for anyone with an interest in human genetics or who uses genetic techniques in the study of diseases with complex inheritance.



Heritable Human Genome Editing

Author : The Royal Society

Publisher : National Academies Press

Page : 239 pages

File Size : 25,69 MB

Release : 2021-01-16

Category : Medical

ISBN : 0309671132

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Book Description

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.



An Introduction to Human Molecular Genetics

Author : Jack J. Pasternak

Publisher : John Wiley & Sons

Page : 656 pages

File Size : 48,28 MB

Release : 2005-06-14

Category : Science

ISBN : 047171917X

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Book Description

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.



Biosocial Surveys

Author : National Research Council

Publisher : National Academies Press

Page : 429 pages

File Size : 11,69 MB

Release : 2008-01-06

Category : Social Science

ISBN : 0309108675

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Book Description

Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.



Mapping and Sequencing the Human Genome

Author : National Research Council

Publisher : National Academies Press

Page : 128 pages

File Size : 12,76 MB

Release : 1988-01-01

Category : Science

ISBN : 0309038405

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Book Description

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.



Assessing Genetic Risks

Author : Institute of Medicine

Publisher : National Academies Press

Page : 353 pages

File Size : 25,86 MB

Release : 1994-01-01

Category : Medical

ISBN : 0309047986

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Book Description

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.



DNA Replication and Human Disease

Author : Melvin L. DePamphilis

Publisher : CSHL Press

Page : 814 pages

File Size : 21,75 MB

Release : 2006

Category : Medical

ISBN : 0879697660

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Book Description

At least 5 trillion cell divisions are required for a fertilized egg to develop into an adult human, resulting in the production of more than 20 trillion meters of DNA! And yet, with only two exceptions, the genome is replicated once and only once each time a cell divides. How is this feat accomplished? What happens when errors occur? This book addresses these questions by presenting a thorough analysis of the molecular events that govern DNA replication in eukaryotic cells. The association between genome replication and cell proliferation, disease pathogenesis, and the development of targeted therapeutics is also addressed. At least 160 proteins are involved in replicating the human genome, and at least 40 diseases are caused by aberrant DNA replication, 35 by mutations in genes required for DNA replication or repair, 7 by mutations generated during mitochondrial DNA replication, and more than 40 by DNA viruses. Consequently, a growing number of therapeutic drugs are targeted to DNA replication proteins. This authoritative volume provides a rich source of information for researchers, physicians, and teachers, and will stimulate thinking about the relevance of DNA replication to human disease.



Scientific Frontiers in Developmental Toxicology and Risk Assessment

Author : National Research Council

Publisher : National Academies Press

Page : 348 pages

File Size : 26,96 MB

Release : 2000-12-21

Category : Nature

ISBN : 0309070864

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Book Description

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.



Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui

Publisher : Academic Press

Page : 318 pages

File Size : 22,82 MB

Release : 2021-06-12

Category : Medical

ISBN : 0128204362

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Book Description

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians



Nature and Nurture

Author : Cynthia Garcia Coll

Publisher : Psychology Press

Page : 332 pages

File Size : 15,72 MB

Release : 2014-04-04

Category : Psychology

ISBN : 1135628963

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Book Description

What does it mean to find a gene or set of genes that are associated with ADHD, schizophrenia, or autism? Could we eradicate such diseases from our species through gene therapy? Is it possible to eradicate from our genome the genetic material that predisposes us to be too aggressive, too shy, less intelligent, or not active enough? Who has the political power and/or moral authority to make these decisions? The premise of Nature and Nurture is that the complexity of the transactions between nature and nurture--between genes and the environment from the cellular to the cultural level--make these questions incredibly complex and in need of careful attention by educators, scientists, the public, and policymakers. A product of the conference held at Brown University in 2001, this book suggests that genes and environments work together interactively in a complex and closely intertwined fashion. The contributors to this book--biologists, psychologists, psychiatrists, and economists--present knowledge that enables research and application to transcend the traditional question of whatever variance or significance is attributed to genetics versus environment in the development of a particular behavioral trait. This book presents a variety of views on the current status of knowledge about the ways in which dynamic, developmental, mutually interactive systems in the genetic and environmental domains operate. The chapters represent contributions from different perspectives.