More related to medical genetics

Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. .

Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.

Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes. Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention.

Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.

Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.

Includes study questions at the end of every chapter so you can test yourself and retain the material.

Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.
“A riveting scientific detective story” (The Washington Post) by two Pulitzer Prize–winning journalists who chronicle a young Wisconsin boy with a never-before-seen disease and the doctors who save his life by taking a new step into the future of medicine.

In this landmark medical narrative, Pulitzer Prize-winning journalists Mark Johnson and Kathleen Gallagher share the story of Nic Volker, the first patient to be saved by a bold breakthrough in medicine—a complete gene sequencing, aimed at finding the cause of an otherwise undiagnosable illness. At just two years old, Nic experienced a brief flicker of pain that signaled the awakening of a new and deadly disease, one that would hurl him and his family into a harrowing journey in search for a lifesaving cure. After his symptoms stump every practitioner, it becomes clear that Nic’s is a one in a billion case, a disease that no one has ever seen before.

As Nic and his family search for answers, the scientific community is racing to bring about the next revolution in medicine—translating results from the Human Genome Project to treatments for actual patients. At the forefront is the brilliant geneticist Howard Jacob, who starts a lab at the Medical College of Wisconsin. Then Nic’s head physician reaches out to Jacob with an unprecedented of idea. A disease like Nic’s is likely due to a rare mutation: if they could sequence his genes to try to find the mutation, the boy might live. Jacob doesn’t know if he can do it; Nic’s doctors don’t know if it will even work; and no one knows what else might lie in the Pandora’s Box of Nic’s genome. But they decide to try—and in doing so, they step into a new era of medicine.

One in a Billion is “a compelling story of a modern medical miracle—the first instance of personalized medicine” (Milwaukee Journal Sentinel) and the birth of a scientific revolution.
Gene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including: Carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed; Preimplantation genetic diagnosis prenatal diagnostic testing new-born screening; Presymptomatic testing for predicting adult-onset disorders such as Huntington's disease; Presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease; Confirmational diagnosis of a symptomatic individual forensic/identity testing. In gene tests, scientists scan a patient's DNA sample for mutated sequences. A DNA sample can be obtained from any tissue, including blood. For some types of gene tests, researchers design short pieces of DNA called probes, whose sequences are complementary to the mutated sequences. These probes will seek their complement among the three billion base pairs of an individual's genome. If the mutated sequence is present in the patient's genome, the probe will bind to it and flag the mutation. Another type of DNA testing involves comparing the sequence of DNA bases in a patient's gene to a normal version of the gene. This book gathers important research in this field.
So much to read, so little time? This brief overview of The Gene tells you what you need to know—before or after you read Siddhartha Mukherjee’s book.
 
Crafted and edited with care, Worth Books set the standard for quality and give you the tools you need to be a well-informed reader. 
 
This short summary and analysis of The Gene by Siddhartha Mukherjee includes:
 Historical contextChapter-by-chapter summariesDetailed timeline of key eventsImportant quotesFascinating triviaGlossary of termsSupporting material to enhance your understanding of the original work 
About Siddhartha Mukherjee’s The Gene:
 
From the Pulitzer Prize–winning author of The Emperor of All Maladies, The Gene is a rigorously scientific, broadly historical, and candidly personal account of the development of the science of genetics, the dramatic ways genes can affect us, and the enormous moral questions posed by our ability to manipulate them. 
 
As Siddhartha Mukherjee maps out the fascinating biography of the gene, from research and experimentation to scientific breakthroughs, he always returns to the narrative of his own family’s tragic history of mental illness, reminding us that despite our huge leaps in knowledge, there is still much we do not understand about the incredibly complex human genome.
 
The Gene is an important read for anyone concerned about a future that may redefine what it means to be human.
 
The summary and analysis in this ebook are intended to complement your reading experience and bring you closer to a great work of nonfiction. 
 
Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others.

In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care.

Presents the work of leading international researchers and clinicians who speak on the clinical applications of genomics, proteomics, metabolomics, microbiomics, and epigenetics, as well as analytic methods and functional omics in oral medicineProvides full-color, richly illustrated chapters that examine systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease and autoimmune diseases Includes clinical case studies that illustrate examples of oral disease diagnostics and management, highlighting points of key importance for the readerEmphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers, and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology, and primary care
Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students.

As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource.

Provides practical analysis of the ethical issues raised by cutting-edge techniques and recent advances in prenatal and reproductive geneticsContains contributions from leading bioethicists and clinicians who offer a global, holistic perspective on applied challenges and moral questions relating to genetic and genomic reproductive technologyDiscusses preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, ethical issues, and more
Epigenetic Biomarkers and Diagnostics comprises 31 chapters contributed by leading active researchers in basic and clinical epigenetics. The book begins with the basis of epigenetic mechanisms and descriptions of epigenetic biomarkers that can be used in clinical diagnostics and prognostics. It goes on to discuss classical methods and next generation sequencing-based technologies to discover and analyze epigenetic biomarkers. The book concludes with an account of DNA methylation, post-translational modifications and noncoding RNAs as the most promising biomarkers for cancer (i.e. breast, lung, colon, etc.), metabolic disorders (i.e. diabetes and obesity), autoimmune diseases, infertility, allergy, infectious diseases, and neurological disorders.

The book describes the challenging aspects of research in epigenetics, and current findings regarding new epigenetic elements and modifiers, providing guidance for researchers interested in the most advanced technologies and tested biomarkers to be used in the clinical diagnosis or prognosis of disease.

Focuses on recent progress in several areas of epigenetics, general concepts regarding epigenetics, and the future prospects of this discipline in clinical diagnostics and prognosticsDescribes the importance of the quality of samples and clinical associated data, and also the ethical issues for epigenetic diagnosticsDiscusses the advances in epigenomics technologies, including next-generation sequencing based tools and applicationsExpounds on the utility of epigenetic biomarkers for diagnosis and prognosis of several diseases, highlighting the study of these biomarkers in cancer, cardiovascular and metabolic diseases, infertility, and infectious diseasesIncludes a special section that discusses the relevance of biobanks in the maintenance of high quality biosamples and clinical-associated data, and the relevance of the ethical aspects in epigenetic studies
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.

An Introduction to Human Molecular Genetics
Second Edition
Jack J. Pasternak
The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text.
The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material.
Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including:
* New chapters on complex genetic disorders, genomic imprinting, and human population genetics
* Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments
This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.
According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease.

This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available.

Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used testsExtensive list of references including links to tutorial websitesCase studies and Tips and Tricks
The first advanced-level genetics counseling skills resource

As genetic medicine and testing continue to expand, so the role of the genetic counselor is transforming and evolving. Genetic Counseling Practice: Advanced Concepts and Skills is the first text to address ways that genetic counselors can deepen their skills to meet expanding practice demands. This timely resource not only helps readers further develop their abilities to gather relevant data and interpret it for patients, it also aids them in surpassing their usual role by truly understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions.

Edited by an expert cross-disciplinary team consisting of a genetic counseling program director, a licensed psychologist, and a nurse/bioethicist/family social scientist, this authoritative reference provides specific and detailed instruction in addressing psychosocial aspects of genetic counseling practice and professional development and training issues of genetic counselors.

Provides a process view of genetic counselor service provision; i.e., skills that promote desired genetic counseling outcomes are emphasized (such as relationship skills, patient characteristics, client behaviors, and extra-clinical skills)

Includes experiential activities in every chapter to help readers apply concepts and skills

Draws on the experience of widely recognized experts in genetic counseling theory, practice, and research, who serve as chapter authors

Features numerous specific, real-life examples from clinical practice

Genetic Counseling Practice addresses issues relevant to practicing genetic counselors as well as students of genetic counseling programs. In addition, oncology nurses, social workers, and psychologists working with genetic counseling patients and families; medical geneticists and physicians training in the field; and physician assistants will also benefit from this resource.

Epigenetic Mechanisms in Cancer provides a comprehensive analysis of epigenetic signatures that govern disease development, progression and metastasis. Epigenetic signatures dictating tumor etiologies present an opportunity for biomarker identification which has broad potential for improving diagnosis, prognosis, prediction, and risk assessment. This volumes offers a unique evaluation of signature differences in childhood, sex-specific and race-specific cancers, and in doing so broadly illuminates the scope of epigenetic biomarkers in clinical environments. Chapters detail the major epigenetic process in humans consisting of DNA methylation, histone modifications and microRNAs (miRNAs) involved in the initiation, progression and metastasis of tumors. Also delineated are recent technologies such as next generation sequencing that are used to identify epigenetic profiles (primarily methylation analysis) in samples (normal, benign and cancerous) and which are highly important to the analysis of epigenetic outcomes.Offers broad coverage that is applicable to audiences in various area of cancer research - population studies, diagnostics, prognosis, prediction, therapy, risk, etc.Provides critical review analysis of the topics that will clarify and delineate the potential roles of epigenetic signatures in cancer managementCovers basic, as well as, clinical areas of epigenetic mechanisms in tumorigenesisFeatures contributions by leading experts in the fieldProvides comprehensive coverage of current epigenetic signatures involved in the etiology of various cancers and miRNAs
Our biology is no longer destiny. Our genes respond to everything we do, according to the revolutionary new science of epigenetics. In other words, our inherited DNA doesn’t rigidly determine our health and disease prospects as the previous generation of geneticists believed. Especially in the last ten years, scientists have confirmed that the vast majority of our genes are actually fluid and dynamic. An endless supply of new studies prove that our health is an expression of how we live our lives—that what we eat and think and how we handle daily stress, plus the toxicity of our immediate environment—creates an internal biochemistry that can actually turn genes on or off. Managing these biochemical effects on our genome is the new key to radiant wellness and healthy longevity.

Now gaining broad credibility among scientists, the study of epigenetics is at the forefront of modern medicine. According to the author, the real upshot of the epigenetic revolution is that it opens the door to what futurists call personalized medicine. For the first time in a trade book, Dr. Pelletier explains in layperson’s language the genetic biomarkers that will become the standard reference for measuring which specific lifestyle changes are required to optimize a given individual’s health. In the very near future, each person’s state-of-the-art genetic and epigenetic profile—matched with other precise indicators such as assays of the gut microbiome—will guide their daily health practices.

This short but profound book by a world-renowned pioneer in integrative medicine introduces readers to this exciting new field, and reveals the steps that each of us can take today to change our genetic expression and thereby optimize our health for a lifetime.

Privacy is an unwieldy concept that has eluded an essentialised definition despite its centrality and importance in the body of bioethics. The compilation presented in this volume represents continuing discussions on the theme of privacy in the context of genetic information. It is intended to present a wide range of expert opinion in which the notion of privacy is examined from many perspectives, in different contexts and imperatives, and in different societies, with the hope of advancing an understanding of privacy through the examination and critique of some of its evolving component concepts such as notions of what constitute the personal, the context of privacy, the significance and impact of the relational interests of others who may share the same genetic inheritance, and mechanisms for the protection of privacy (as well as of their limitations), among others. More specifically, the discussions in this volume encourages us to think broadly about privacy, as encompassing values that are entailed in the sociality of context and of relations, and also as freedom from illegitimate and excessive surveillance. A long-standing question that continues to challenge us is whether genetic information should be regarded as exceptional, as it is often perceived. A conclusion that could be derived from this volume is that while genetic information may be significant, it is not exceptionally so. The work presented in this volume underlines the continuing and growing relevance of notions of privacy to genomic science, and the need to take ownership of a genetic privacy for the future through broad, rigorous and open discussion.Contributors: Alastair V Campbell, Benjamin Capps, Jacqueline JL Chin, Oi Lian Kon, Kenji Matsui, Thomas H Murray, Nazirudin Mohd Nasir, Dianne Nicol, Anh Tuan Nuyen, Onora O'Neill, Margaret Otlowski, Yvette van der Eijk, Chunshui Wang, Ross S White.
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