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Author: Joselin Linder Publisher: HarperCollins ISBN: 0062378929 Category : Biography & Autobiography Languages : en Pages : 245
Book Description
A riveting medical mystery about a young woman’s quest to uncover the truth about her likely fatal genetic disorder that opens a window onto the exploding field of genomic medicine When Joselin Linder was in her twenties her legs suddenly started to swell. After years of misdiagnoses, doctors discovered a deadly blockage in her liver. Struggling to find an explanation for her unusual condition, Joselin compared the medical chart of her father—who had died from a mysterious disease, ten years prior—with that of an uncle who had died under similarly strange circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms similar to hers before her death. Clearly, this was more than a fluke. Setting out to build a more complete picture of the illness that haunted her family, Joselin approached Dr. Christine Seidman, the head of a group of world-class genetic researchers at Harvard Medical School, for help. Dr. Seidman had been working on her family’s case for twenty years and had finally confirmed that fourteen of Joselin’s relatives carried something called a private mutation—meaning that they were the first known people to experience the baffling symptoms of a brand new genetic mutation. Here, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. Digging into family records and medical history, conducting interviews with relatives and friends, and reflecting on her own experiences with the Harvard doctor, Joselin pieces together the lineage of this deadly gene to write a gripping and unforgettable exploration of family, history, and love. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a young woman reckoning with her father’s death, her own mortality, and her ethical obligations to herself and those closest to her.
Author: Joselin Linder Publisher: HarperCollins ISBN: 0062378929 Category : Biography & Autobiography Languages : en Pages : 245
Book Description
A riveting medical mystery about a young woman’s quest to uncover the truth about her likely fatal genetic disorder that opens a window onto the exploding field of genomic medicine When Joselin Linder was in her twenties her legs suddenly started to swell. After years of misdiagnoses, doctors discovered a deadly blockage in her liver. Struggling to find an explanation for her unusual condition, Joselin compared the medical chart of her father—who had died from a mysterious disease, ten years prior—with that of an uncle who had died under similarly strange circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms similar to hers before her death. Clearly, this was more than a fluke. Setting out to build a more complete picture of the illness that haunted her family, Joselin approached Dr. Christine Seidman, the head of a group of world-class genetic researchers at Harvard Medical School, for help. Dr. Seidman had been working on her family’s case for twenty years and had finally confirmed that fourteen of Joselin’s relatives carried something called a private mutation—meaning that they were the first known people to experience the baffling symptoms of a brand new genetic mutation. Here, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. Digging into family records and medical history, conducting interviews with relatives and friends, and reflecting on her own experiences with the Harvard doctor, Joselin pieces together the lineage of this deadly gene to write a gripping and unforgettable exploration of family, history, and love. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a young woman reckoning with her father’s death, her own mortality, and her ethical obligations to herself and those closest to her.
Author: M. Neale Publisher: Springer Science & Business Media ISBN: 9401580189 Category : Medical Languages : en Pages : 503
Book Description
Few would dispute the truth of the statement `People are Different', but there is much controversy over why. This book authoritatively explains the methods used to understand human variation, and extends them far beyond the primary `nature or nurture' question. After chapters on basic statistics, biometrical genetics, matrix algebra and path analysis, there is a state-of-the-art account of how to fit genetic models using the LISREL package. The authors explain not only the assumptions of the twin method, but how to test them. The elementary model is expanded to cover sex limitation, sibling interaction, multivariate and longitudinal data, observer ratings, and twin-family studies. Throughout, the methods are illustrated by applications to diverse areas such as obesity, major depression, alcohol comsumption, delinquency, allergies, and common fears.
Author: Ziheng Yang Publisher: Oxford University Press, USA ISBN: 0198566999 Category : Medical Languages : en Pages : 374
Book Description
This book describes the models, methods and algorithms that are most useful for analysing the ever-increasing supply of molecular sequence data, with a view to furthering our understanding of the evolution of genes and genomes.
Author: Robin L. Bennett Publisher: John Wiley & Sons ISBN: 1118209818 Category : Medical Languages : en Pages : 389
Book Description
HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved. This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.
Author: Joram Piatigorsky Publisher: Harvard University Press ISBN: 9780674023413 Category : Science Languages : en Pages : 434
Book Description
In Gene Sharing and Evolution Piatigorsky explores the generality and implications of gene sharing throughout evolution and argues that most if not all proteins perform a variety of functions in the same and in different species, and that this is a fundamental necessity for evolution.
Author: Roger S Holmes Publisher: World Scientific ISBN: 9814548014 Category : Languages : en Pages : 234
Book Description
Genes exist predominantly as families with related structures and functions, particularly within eucaryotic organisms. The isozyme concept was first introduced by Markert and MØller in 1959, and has formed the basis of large numbers of scientific investigations and conferences on gene families since that time. This volume is based on presentations made by invited Plenary and Symposia speakers at the Eighth International Congress on Isozymes on the topic of Gene Families: Structure, Function, Genetics and Evolution. The major themes for the Congress were in the following areas: molecular evolution; population genetics; enzymology; Australian fauna; biomedical aspects; molecular genetics; cellular compartmentation; gene regulation; and developmental genetics.
Author: Robin L. Bennett Publisher: John Wiley & Sons ISBN: 0471459143 Category : Medical Languages : en Pages : 271
Book Description
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
Author: Guoxiong Xue Publisher: World Scientific ISBN: 9789812810557 Category : Medical Languages : en Pages : 338
Book Description
This archival volume is an invaluable collection of rigorously reviewed articles by experts in the fields of gene families, DNA, RNA and proteins, to commemorate the passing of a giant of science OCo Professor Clement L Markert (1917OCo1999). In 1959, Clement Markert and Freddy Moller developed the concept of the isozyme, which paved the way for extensive studies of enzyme, protein and gene multiplicity across all living organisms. This important scientific discovery has had a profound influence on the biological sciences for more than 40 years, and has provided the basis for regular international meetings to discuss the biological and biomedical implications of enzyme multiplicity. More recently, this concept has been extended to a wide range of gene families of DNA, RNA, proteins and enzymes. Contents: Clement Markert (G L Hammond); Identification of Novel Gene Family Members Based on Efficient Full-Length cDNA Cloning (J Gu et al.); Aldehyde Dehydrogenases of Human Corneal and Lens Epithelial Cells (R S Holmes); X-Chromosome Inactivation During Spermatogenesis: The Original Dosage Compensation Mechanism in Mammals? (J R Mc Carrey); Probing for the Basis of the Low Activity of the Oriental Variant of Liver Mitochondrial Aldehyde Dehydrogenase (B Wei & H Weiner); The Roles of Carbonic Anhydrase Isozymes in Cancer (W R Chegwidden et al.); MHC Class II Suppression by Trophoblast cDNAs (G L Hammond et al.); Molecular Information Fusion for Metabolic Networks (R Hofestndt et al.); Effect of Heterogeneous Sperm and Hybridization of DNA Fragment in Allogynogenetic Silver Crucian Carp (D Xia et al.); Gene Expression During Carrot Somatic Embryogenesis (N Wu); and other papers. Readership: Graduate students, post-docs and experts interested in gene families."
Author: Itai Yanai Publisher: Harvard University Press ISBN: 0674425022 Category : Science Languages : en Pages : 295
Book Description
Nearly four decades ago Richard Dawkins published The Selfish Gene, famously reducing humans to “survival machines” whose sole purpose was to preserve “the selfish molecules known as genes.” How these selfish genes work together to construct the organism, however, remained a mystery. Standing atop a wealth of new research, The Society of Genes now provides a vision of how genes cooperate and compete in the struggle for life. Pioneers in the nascent field of systems biology, Itai Yanai and Martin Lercher present a compelling new framework to understand how the human genome evolved and why understanding the interactions among our genes shifts the basic paradigm of modern biology. Contrary to what Dawkins’s popular metaphor seems to imply, the genome is not made of individual genes that focus solely on their own survival. Instead, our genomes comprise a society of genes which, like human societies, is composed of members that form alliances and rivalries. In language accessible to lay readers, The Society of Genes uncovers genetic strategies of cooperation and competition at biological scales ranging from individual cells to entire species. It captures the way the genome works in cancer cells and Neanderthals, in sexual reproduction and the origin of life, always underscoring one critical point: that only by putting the interactions among genes at center stage can we appreciate the logic of life.
Author: Robert L. Nussbaum Publisher: ISBN: 9788131243145 Category : Languages : en Pages : 532
Book Description
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos.
Author: Joselin Linder
Author: Joselin Linder
Author: M. Neale
Author: Ziheng Yang
Author: Robin L. Bennett
Author: Joram Piatigorsky
Author: Roger S Holmes
Author: Robin L. Bennett
Author: Guoxiong Xue
Author: Itai Yanai
Author: Robert L. Nussbaum