Download or read book The Morbid Anatomy of the Human Genome written by Victor Almon McKusick and published by . This book was released on 1988 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The morbid anatomy of the human genome written by Víctor Almon Mckusick and published by . This book was released on 2001 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Morbid Anatomy of the Genome written by Ram S. Verma and published by Elsevier Science Limited. This book was released on 1993 with total page 447 pages. Available in PDF, EPUB and Kindle. Book excerpt: The technical advances in molecular biology have endowed us with a wealth of knowledge, which has allowed us to identify the cause of diseases not only at a single gene level but at a greater magnitude, where a substitution or deletion of a single base pair can be identified. Our present task is to establish a clear link between phenotype and nucleotide sequence. Obviously, a gene is no longer an imaginary entity. Recent discoveries in a number of bewildering traits, whose inheritance do not follow simple mendelian rules, have caused much amazement. For example, fragile X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy arise from "triples repeat mutation" and amplification in future generations. Genetic diseases which are inherited, can now be diagnosed prenatally; an idea that was once inconceivable. The aim of the second volume, entitled Morbid Anatomy of the Genome, is to reflect on the importance of molecular genetics in modern medicine. The field has expanded so as to warrant a volume dedicated exclusively toward understanding those who wish to know the cause, detection and in turn treatment of such diseases. In this volume, I have commissioned several scientists to contribute 12 chapters. A chapter describing a special role of molecular genetics in combating genetic diseases through gene therapy has also been included, while chapter 13 is a commentary. A complete account of all diseases whose genetic basis is well established would be a herculean task and is not within the scope of a single volume format. Therefore a few specific topics have been chosen which may be of the greatest interest to scientists and clinicians. The purpose of this issue is to keep abreast of the latest developments in a select group of genetic diseases.
Download or read book The Morbid Anatomy of Some of the Most Important Parts of the Human Body Third American from the Fifth London Edition written by Matthew BAILLIE and published by . This book was released on 1820 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Morbid Anatomy of Some of the Most Important Parts of the Human Body written by Matthew Baillie and published by . This book was released on 1795 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Morbid Anatomy of Some of the Most Importants Parts of the Human Body written by Matthew Baillie and published by . This book was released on 1812 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Morbid Anatomy of Some of the Most Important Parts of the Human Body written by Matthew Baillie and published by . This book was released on 1798 with total page 460 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book OTA Report on the Human Genome Project written by United States. Congress. House. Committee on Energy and Commerce. Subcommittee on Oversight and Investigations and published by . This book was released on 1988 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inside the Human Genome written by John C. Avise and published by Oxford University Press. This book was released on 2010-02-12 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Humanity's physical design flaws have long been apparent--we get hemorrhoids and impacted wisdom teeth, for instance--but do the imperfections extend down to the level of our genes? Inside the Human Genome is the first book to examine the philosophical question of why, from the perspectives of biochemistry and molecular genetics, flaws exist in the biological world. Distinguished evolutionary geneticist John Avise offers a panoramic yet penetrating exploration of the many gross deficiencies in human DNA--ranging from mutational defects to built-in design faults--while at the same time offering a comprehensive treatment of recent findings about the human genome. The author shows that the overwhelming scientific evidence for genomic imperfection provides a compelling counterargument to intelligent design. He also develops a case that theologians should welcome rather than disavow these discoveries. The evolutionary sciences can help mainstream religions escape the shackles of Intelligent Design, and thereby return religion to its rightful realm--not as the secular interpreter of the biological minutiae of our physical existence, but rather as a respectable philosophical counselor on grander matters of ultimate concern.
Download or read book A Century of Mendelism in Human Genetics written by Milo Keynes and published by CRC Press. This book was released on 2004-03-15 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: In 1901 William Bateson, Professor of Biology at Cambridge, published a renewed version of a lecture which he had delivered the year before to the Royal Horticultural Society in London (reprinted in the book as an appendix). In this lecture he recognized the importance of the work completed by Gregor Mendel in 1865, and brought it to the notice of
Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008-10-24 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.
Download or read book Molecular Basis of Lysosomal Storage Disorders written by John Barranger and published by Elsevier. This book was released on 2012-12-02 with total page 523 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Basis of Lysosomal Storage Disorders contains the proceedings of the 1983 Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health in Bethesda, Maryland. The papers focus on the molecular biology of, and therapeutic approaches to, lysosomal storage disorders, such as mucopolysaccharidoses, sphingolipidoses, and Gaucher disease. Organized into six sections comprised of 29 chapters, this book begins with an overview of enzymes, activator proteins, and stabilizers that underlie lysosomal storage disorders. It then discusses some developments in enzyme purification, receptors for glycoprotein enzymes, factors that control endocytosis, and the intracellular fate of lysosomal hydrolases. Some chapters explain the enzyme biosynthesis, bone marrow transplantation, and enzyme replacement, along with cell hybridization, chromosome localization, phenotype discrimination, and cloning of genes for human lysosomal enzymes. This book is helpful to biochemists, physiologists, pathologists, geneticists, clinical investigators, and practicing physicians concerned with the study, care, and treatment of patients with hereditary metabolic disorders, as well as undergraduate and graduate level students involved in research in this discipline.
Download or read book Victor McKusick and the History of Medical Genetics written by Krishna R. Dronamraju and published by Springer Science & Business Media. This book was released on 2012-06-08 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.
Download or read book The Gene Wars written by Robert M. Cook-Deegan and published by W. W. Norton & Company. This book was released on 1994 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cook-Deegan, a former director of the Biomedical Ethics Advisory Committee of the US Congress and an advisor to the National Center for Human Genome Research, gives a firsthand account of the struggle to launch the Human Genome Project. Using primary documents and interviews, Cook-Deegan explains scientific details, chronicles the origins of the project, covers the conflicts and partnerships between the organizations involved, and examines ethical, legal, and social issues of DNA research. Includes bandw photos. Annotation copyright by Book News, Inc., Portland, OR
Download or read book Life Histories of Genetic Disease written by Andrew J. Hogan and published by JHU Press. This book was released on 2016-11 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: A history of genetic testing warns that such tests may tell us more than we want to know. Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Download or read book Practical Genetic Counselling written by Peter Harper and published by CRC Press. This book was released on 2010-08-27 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical
Download or read book A Companion to the History of American Science written by Georgina M. Montgomery and published by John Wiley & Sons. This book was released on 2019-09-23 with total page 726 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Companion to the History of American Science offers a collection of essays that give an authoritative overview of the most recent scholarship on the history of American science. Covers topics including astronomy, agriculture, chemistry, eugenics, Big Science, military technology, and more Features contributions by the most accomplished scholars in the field of science history Covers pivotal events in U.S. history that shaped the development of science and science policy such as WWII, the Cold War, and the Women’s Rights movement
