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Morbid Anatomy of the Genome

Morbid Anatomy of the Genome PDF Author: Ram S. Verma
Publisher: Elsevier Science Limited
ISBN: 9781559385831
Category : Science
Languages : en
Pages : 447

Book Description
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.

The Morbid Anatomy of the Human Genome

The Morbid Anatomy of the Human Genome PDF Author: Victor Almon McKusick
Publisher:
ISBN:
Category : Gene mapping
Languages : en
Pages : 238

Book Description


Morbid Anatomy of the Genome

Morbid Anatomy of the Genome PDF Author: Ram S. Verma
Publisher: Elsevier Science Limited
ISBN: 9781559385831
Category : Science
Languages : en
Pages : 447

Book Description
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.

The morbid anatomy of the human genome

The morbid anatomy of the human genome PDF Author: VĂ­ctor Almon Mckusick
Publisher:
ISBN:
Category :
Languages : es
Pages : 227

Book Description


Curiosity Guides: The Human Genome

Curiosity Guides: The Human Genome PDF Author: John Quackenbush
Publisher: Charlesbridge Publishing
ISBN: 1607345153
Category : Science
Languages : en
Pages : 189

Book Description
The DNA sequence that comprises the human genome--the genetic blueprint found in each of our cells--is undoubtedly the greatest code ever to be broken. Completed at the dawn of a new millennium, the feat electrified both the scientific community and the general public with its tantalizing promise of new and better treatments for countless diseases, including Alzheimer's, cancer, diabetes, and Parkinson's. Yet what is arguably the most important discovery of our time has also opened a Pandora's box of questions about who we are as humans and how the unique information stored in our genomes can and might be used, making it all the more important for everyone to understand the new science of genomics. In the CURIOSITY GUIDE TO THE HUMAN GENOME, Dr. John Quackenbush, a renowned scientist and professor, conducts a fascinating tour of the history and science behind the Human Genome Project and the technologies that are revolutionizing the practice of medicine today. With a clear and engaging narrative style, he demystifies the fundamental principles of genetics and molecular biology, including the astounding ways in which genes function, alone or together with other genes and the environment, to either sustain life or trigger disease. In addition, Dr. Quackenbush goes beyond medicine to examine how DNA-sequencing technology is changing how we think of ourselves as a species by providing new insights about our earliest ancestors and reconfirming our inextricable link to all life on earth. Finally, he explores the legal and ethical questions surrounding such controversial topics as stem cell research, prenatal testing, forensics, and cloning, making this volume of the Curiosity Guides series an indispensable resource for navigating our brave new genomic world.

The Human Genome

The Human Genome PDF Author: T. Strachan
Publisher: Taylor & Francis
ISBN:
Category : Science
Languages : en
Pages : 176

Book Description
A concise description of the structure of the human genome and the ways in which recent knowledge is influencing medical research and practice. If you have any interest in the Human Genome Project, this book is a must!

It Ain't Necessarily So

It Ain't Necessarily So PDF Author: Richard C. Lewontin
Publisher:
ISBN:
Category : Literary Collections
Languages : en
Pages : 368

Book Description
"In these ten essays, all of which were originally published in The New York Review of Books, Lewontin combines criticisms of overreaching scientific claims with expositions of the exact state of current scientific knowledge - not only what we do know, but what we don't and maybe won't anytime soon. In discussions of heredity, natural selection, and gender, evolutionary psychology and altruism, sex surveys, cloning, mapping the human genome, and genetic engineering in agriculture, he casts an eye on the temptation to look to biology for explanations of everything we want to know about our physical, mental, and social lives." "The second edition of this collection includes new essays on genetically modified food and the completion of the Human Genome Project. It is an indispensible guide to the most controversial issues in the life sciences today."--BOOK JACKET.Title Summary field provided by Blackwell North America, Inc. All Rights Reserved

Genome

Genome PDF Author: Jerry E. Bishop
Publisher: Touchstone
ISBN:
Category : Fiction
Languages : en
Pages : 372

Book Description
Studies the attempt to map all the genes in the human body, examining the resulting breakthroughs and the implications for research.

Inside the Human Genome

Inside the Human Genome PDF Author: John C. Avise
Publisher: Oxford University Press
ISBN: 0195393430
Category : Medical
Languages : en
Pages : 237

Book Description
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.

A Century of Mendelism in Human Genetics

A Century of Mendelism in Human Genetics PDF Author: Milo Keynes
Publisher: CRC Press
ISBN: 0203392159
Category : Medical
Languages : en
Pages : 170

Book Description
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

ICRF Handbook of Genome Analysis

ICRF Handbook of Genome Analysis PDF Author: N. S. Spurr
Publisher: John Wiley & Sons
ISBN: 1444313479
Category : Science
Languages : en
Pages : 1038

Book Description
The combined power of genetic analysis and recombinant DNA technology to analyse entire genomes has moved biomedical research into a new and revolutionary phase. The complete sequencing and mapping of the human genome, as well as the genomes of other model organisms, will be the basis for our future understanding of human disease, and will allow us to answer fundamental questions about development and evolution. T The new ICRF Handbook of Genome Analysis is the essential guide to the enormous range of techniques available to the researcher for both the genetic and physical mapping of the genome, as well as the sequencing and analysis of DNA. It is both a protocol manual and a comprehensive information resource. Written by international experts, each chapter presents a state-of-the-art review of a methodology. Methods are fully described and evaluated; their advantages and disadvantages discussed; and their suitability for different investigations considered. Step-by-step protocols, including computer analyses, are given for 123 essential experimental procedures. 'Troubleshooting' sections discuss possible reasons for failure and offer remedies. The primary focus is on human genetics and the benefits of an understanding of the genome for the diagnosis and treatment of human disease. The book also considers the current state of progress in the analysis of genomes of many model organisms, including plants. A major part of the work provides detail on Internet resources as well as basic data on human and other genomes, including mapped disease genes and mouse knockouts. Covers not only the human genome in relation to cancers and other human diseases, but also the genomes of all important model organisms Contains 123 easy-to-follow protocols for essential experimental procedures Reviews a vast range of other information resources, including journals and the Internet * provides an invaluable listing of suppliers of laboratory materials Has been written by international experts from their own practical experience Is mandated by the Imperial Cancer Research Fund - a leader in research in this field Has a sturdy spiral binding within a hardback case for ease of use in the lab