Search

Genetic disorders are diseases caused by mutation in gene(s) or due to chromosomal disorder. Although most genetic diseases are rare, but not all rare diseases are caused by genetic disorders. Due to limited information and lack of access to treatment, the management of rare diseases is frequently complicated. Up to December 2020, a total of 470 rare diseases have been registered and recognised by the Ministry of Health, Malaysia. This book highlights some of the genetic disorders and their resulting rare diseases that have been reported in Malaysia, including their prevalence, molecular mechanism and pathogenesis, besides discussing their diagnosis, treatment and prevention methods. The compilation of thirteen chapters is ultimately aimed at stimulating further research endeavours on the related diseases. Besides serving as an important reference to healthcare authorities, planners, policymakers, students, and the public; Genetic Disorders and Rare Diseases: Current Updates significantly contributes to the betterment of patient outcomes.

Post-transcriptional Gene Regulation in Human Disease, a new volume in the Translational Epigenetics book series, offers a thorough overview and discussion of post-transcriptional genetic control mechanisms and their roles across various pathologies and human developmental outcomes, along with regulatory mechanisms targeted for therapeutic approaches. The book is broadly divided in two parts: early chapters describe the basics of post-transcriptional gene regulation, associated epigenetic mechanisms, the role of RNA binding proteins, the evolution of post-transcriptional gene regulation, and methods to study these mechanisms. The second half of the book includes deeper discussion of post-transcriptional gene regulation across specific diseases and therapeutics targets. Various post-transcriptional events, including alternative splicing and polyadenylation, mRNA stability, and miRNAs and their involvement in the disease progression, are examined in detail. - Includes full-color imagery illustrating key concepts and post-transcriptional disease processes, as well as descriptions of methods for studying post-transcriptional gene regulation - Presents fundamental knowledge, molecular and biochemical mechanisms, and recent findings in concise and easily understandable formats - Features a summary and conclusion at the end of each chapter

Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins. Key Features Describes the genetic polymorphism and its various types Discusses the role of genetic polymorphisms in modulating the risk of various human diseases Explores various molecular techniques used for detecting GPs Characterizes the role of SNPs in modulating the susceptibility of human diseases Provides a genetic basis for individual variations in response to therapeutics

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

New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. - Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods - Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics - A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Depuis le premier décodage du génome humain, terminé en 2004, les connaissances génomiques ont tout bonnement explosé. À tel point qu'il ne paraît pas absurde de parler de révolution génétique. Dorénavant, chacun d'entre nous peut, pour quelques centaines d'euros, faire séquencer son ADN. Cela ne va pas toutefois sans susciter de nombreuses questions : comment fonctionnent ces tests génétiques? à quoi servent-ils? sont-ils efficaces? peuvent-il nous aider à nous soigner? à prédire nos maladies? quels problèmes éthiques posent-ils?Cet ouvrage fait le point sur les travaux les plus actuels dans le domaine. Il répond de manière pédagogique aux nombreuses questions que posent les tests génétiques. Il apportera notamment à chacun les outils pour évaluer et comprendre les enjeux actuels et à venir, aussi bien en matière de santé (prévention, traitement, etc.) que du point de vue social (déontologie, cadre légal, perspectives, etc.).À PROPOS DES AUTEURESPerrine Malzac est praticienne hospitalière au sein du département de génétique médicale de l'Assistance publique-hôpitaux de Marseille (AP-HM). Elle participe à la réflexion en éthique médicale depuis 2003. Elle est actuellement directrice adjointe de l'Espace de réflexion éthique Paca-Corse, au sein duquel elle organise des formations et des conférences à destination de publics professionnels, associatifs ainsi que des citoyens. Elle participe à la recherche dans l'UMR 7268 ADES (anthropologie-droit-éthique-santé) Aix-Marseille université-EFS-CNRS.Marion Mathieu est docteur en biologie et ingénieur (ESPCI-ParisTech). Depuis 2003, elle conduit des formations pour l'association Tous Chercheurs, dont la mission est d'initier le public à la démarche scientifique et au milieu de la recherche. Tous Chercheurs forme chaque année près de 200 membres d'associations sur des thèmes variés comme la vaccination, les essais cliniques, les tests génétiques, etc.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. - Offers pathways for diagnosis, prevention and disease management - Includes color images supporting identification, concept illustration and method processing - Features contributions by leading international researchers and practitioners of medical genetics

For as much as we know about DNA and gene expression, many more mysteries remain to be solved. Epigenetics and epigenomics seek to study heritable modifications in gene expression that do not involve underlying DNA sequences to further human health changes. Examining the Causal Relationship Between Genes, Epigenetics, and Human Health provides innovative research methods and applications of chemical activation or deactivation of genes without altering the original DNA sequence. While highlighting topics including gene expression, personalized medicine, and public policy, this book is ideal for researchers, geneticists, biologists, medical professionals, students, and academics seeking current research on the expanding fields of genomics, epigenomics, proteomics, pharmacogenomics, and genome-wide association studies.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Introduces genetic researchers, students, and health professionals to basic theories, concepts, research areas, and the history of medical genetics, offering a contextual framework for integrating genetics into medical practice - Completely revised and up-to-date, this new edition highlights traditional approaches and new developments in the field of medical genetics, including cancer genetics, genomic technologies, genome and exome sequencing, prenatal diagnosis, public health genetics, genetic counseling, and single-cell analysis for diagnosis - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics

With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people's lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.

This book offers an in-depth and comprehensive review on current understanding of regulatory ncRNAs in complex diseases from a view of bioinformatics. It conveys state-of-the-art bioinformatics tools and methods for ncRNAs from computational detection, functional prediction, to their roles in diseases. Computational methods used to investigate uncharacterised ncRNAs in diseases are mainly summarized in seven aspects: DNA variation of ncRNAs in diseases, prioritization of disease-related ncRNAs, dysregulation epigenetic factors that regulate ncRNA misexpression (DNA methylation and histone-modification), complex crosstalk across ncRNAs, ncRNAs acted as competing regulators to mediate the expression of protein-coding genes, non-coding RNAs mediated risk pathways,and their contributions to drug target predictions. The generally used data resources of ncRNAs are also listed in the end. This book provides important information on the current progress in the fast-moving fields of bioinformatics for regulatory ncRNAs. It provides a timely and useful reference for computational biologists, specifically with RNA interests, and other related areas.Prof. Xia Li is a Professor and the Dean of College of Bioinformatics Science and Technology, Harbin Medical University, China. Dr. Yun Xiao, Dr. Juan Xu, Dr. Shangwei Ning and Dr. Yunpeng Zhang are from College of Bioinformatics Science and Technology, Harbin Medical University, China.

Obtain evidence-based information to make timely and accurate diagnoses and treatment decisions. Continuing with this volume, Succinct Pediatrics is an ongoing series covering the entire scope of pediatric medicine. Each volume includes concise chapters with key features and invaluable tables and algorithms—resources health care professionals can use to deliver the highest quality of care. This third volume features 41 topics with key points and detailed therapies in neonatology, genetic and metabolic disorders, neurology, and developmental and behavioral disorders. Evidence-based levels of decision support are also provided throughout the book to provide insight into diagnostic tests and treatment modalities.Topics includeApnea of PrematurityBirth InjuriesRespiratory Distress SyndromeDown Syndrome and Turner SyndromeAtaxia and Movement DisordersCerebral PalsyFebrile SeizuresHydrocephalusAutism Spectrum DisordersBehavior Patterns in Infancy and PreschoolCongenital Heart DiseaseSudden Unexpected Infant DeathAnd more…

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. - Contains comprehensive coverage of neurogenetics - Details the latest science and its impact on our understanding of neurological, psychiatric disorders - Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. - Presents a comprehensive coverage of neurogenetics - Details the latest science and impact on our understanding of neurological psychiatric disorders - Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery's enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge. Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics •Interactive self-assessment questions •Case-based questions •Online hyperlinks to important genetics websites and clinical databases. •Update of clinical figures to include more full-colour images •An extensive glossary of terms •Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures •Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders. •Elements boxes at the end of each chapter summarizing the basics at a glance.

This book presents clinical and research aspects of medicine and social dimensions of healthcare. It is designed for an audience with interest in health and societal factors. It is in part autobiographical, based on different phases of the author's life in medicine over 50 years, who revisited cases and problems encountered as she worked in different countries, including South Africa, Scotland, England and North America. Essays encompass aspects of clinical medicine and aspects of research, particularly in Genetics and Genomic Medicine. New information on the topic or disorder and current opinions and approaches to finding solutions are reviewed.

'[Kolata] is a gifted storyteller. Her account of the Baxleys... is both engrossing and distressing... Kolata's book raises crucial questions about knowledge that can be both vital and fatal, both pallative and dangerous.'—Andrew Solomon, The New York Review of BooksNew York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw.The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out.If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you'd inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It's a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family's destiny.

Epigenetic mechanisms (DNA modifications, histone alterations and non-coding RNAs) are crucial for transcriptional regulation and alterations of the “physiological epigenome” are increasingly associated with human diseases. During the last decade the emerging field of neuroepigenomics have started to impact tremendously in areas such learning and memory, addiction or neurodegeneration. This expert volume covers the role of epigenetic molecular mechanism in regulation of central nervous system's function, one of the most exciting areas of contemporary molecular neuroscience. The book describes the current knowledge on the epigenetic basis of human disease covering the complete lifespan: from neurodevelopment/childhood (Rett Syndrome, Rubinstein-Taybi, autism), adolescence (eating disorders, drug addiction, anxiety), adulthood (depression, schizophrenia, amyotrophic lateral sclerosis, Huntington's disease) and elderly (Alzheimer's disease, Parkinson's disease). The book also covers the three major players on neuroepigenomic mechanisms: histones alterations, DNA modifications and non-coding RNAs, their roles at the molecular and cellular level and the impact of their alterations on neuronal function and behavior. Finally, a special chapter on state-of-the-art technologies helps the reader not only to understand epigenetic driven changes in human cognition and diseases but also the methodology that will help to generate paradigm shifts on our understanding of brain function and the role of the neuroepigenome in human diseases.

This unique book explores the role of retrotransposons in human health and disease. The ability of retrotransposons to affect the structure of human genes is recognized since the late 80's. However, the advances of deep-sequencing technologies have shed new light on the extent of retrotransposon-mediated genome variations. These progresses have also led to the discovery that retrotransposon activity is not restricted to the germline - resulting in inheritable genetic variations - but can also mobilize in somatic tissues, such as embryonic stem cells, neuronal progenitor cells, or in many cancers. This book covers topics related to the effects of retrotransposon insertions, and their consequences on germline and somatic genome dynamics, but also discuss the role and impact of retrotransposons sequences in a broader context, including a number of novel topics that emerged recently (long non-coding RNA, neuronal disorders, exaptation) with unexpected connections between retrotransposons, stem cell maintenance, placentation, circadian cycles or aging.

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

A “surprisingly buoyant” memoir about “how it feels to face the likelihood of a shortened life... reminds us that hope ‘isn't the same thing as truth'” (New Yorker).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 similar circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms like 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. Dr. Seidman confirmed that fourteen of Joselin's relatives carried a brand new genetic mutation, making them the first known people to experience the baffling symptoms. Here, Joselin tells the story of their gene: the lives it claimed and the potential of genomic medicine to save those that remain. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a woman reckoning with her father's death, her own mortality, and her ethical obligations to herself and those closest to her. “Both congenial and engaging, despite the long shadow of a broken gene.” —New York Times Book Review“An invaluable addition to the literature that dramatizes severe illness and its impact.” —Minneapolis Star Tribune“Moving and deft.” —Publishers Weekly, starred review

This volume focuses on the roles of long non-coding RNAs (lncRNAs) in contexts ranging from human cancers to cardiovascular disease and ageing. The role of lncRNAs in X-inactivation and those lncRNAs derived from pseudogenes, past retroelements integrated within the human genome, as well as the role these pseudogene-derived lncRNAs play in cancer development are discussed in detail. Further, the book examines the function of lncRNAs in diseases such as diabetes, in smooth muscle formation, and in the modulation of nuclear receptors, as well as in connection with perspectives on the development of personalized therapeutics. It offers an appealing and insightful resource for scientists and clinicians alike.

Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. Self-assessment study questions aid in retention and review of key material. 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.

This book presents the diverse clinical, cellular and molecular manifestations of NF-KB-related genetic diseases. It shows that studying patient-related pathologies affecting the components of the NF-KB signaling pathway offers the opportunity to understand the various functions of NF-KB in humans, complementing studies performed with mouse models. In addition, people treating those patients acquire a deeper understanding of the molecular basis of the pathophysiological processes.

Genetics of Complex Disease is a concise text for final year undergraduate and first year graduate students. Healthcare professionals and other biomedical scientists trying to come to grips with the impact of new genetics research will also find the book useful. After explaining genetic variation and defining complex diseases, the text shows how and why complex diseases are investigated. The focus then changes to areas where there is strong evidence for the genes/alleles involved. Important ethical consequences are also covered, as are the methods used to generate new genetic data.

A leading geneticist explores what promises to be one of the most transformative advances in health and medicine in historyAlmost every week, another exciting headline appears about new advances in the field of genetics. Genetic testing is experiencing the kind of exponential growth once seen with the birth of the Internet, while the plummeting cost of DNA sequencing makes it increasingly accessible for individuals and families.Steven Lipkin and Jon Luoma posit that today's genomics is like the last century's nuclear physics: a powerful tool for good if used correctly, but potentially dangerous nonetheless. DNA testing is likely the most exciting advance in a long time for treating serious disease, but sequencing errors, complex biology, and problems properly interpreting genetic data can also cause life-threatening misdiagnoses of patients with debilitating and fatal genetic diseases. DNA testing can also lead to unnecessary procedures and significantly higher health-care costs. And just around the corner is the ability to cure genetic diseases using powerful gene-editing technologies that are already being used in human embryo research. Welcome to the Age of Genomes!The Age of Genomes immerses readers in true stories of patients on the frontier of genomic medicine and explores both the transformative potential and risks of genetic technology. It will inform anxious parents increasingly bombarded by offers of costly new prenatal testing products, and demonstrate how genetic technology, when deployed properly, can significantly improve the lives of patients who have devastating neurological diseases, cancer, and other maladies. Dr. Lipkin explains the science in depth, but in terms a layperson can follow.

HIGHLY COMMENDED IN THE 2016 BMA MEDICAL BOOK AWARDS! Instructors'comments on new, 3rd edition:'I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel.''I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!''I LIKE IT A LOT!!''The book looks good and we will certainly be recommending it for our medical genetics course this autumn.''This is a fantastic book that I enjoy so much teaching from.''I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end.''I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it.''It's great. I will recommend the book as a main text for the medical student class.'In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation a new integrated treatment of epigenetics mosaicism, ‘RASopathies'and disorders of the spliceosome are described in new Di

Motor dysfunction and cognitive impairment are major symptoms in both Huntington's Disease (HD) and Parkinson's Disease (PD). A breakthrough in HD research was the identification of the gene that causes this devastating monogenetic illness. Similarly, several genes were found to cause familial forms of PD. With their identification, a plethora of genetic animal models has been generated and has revolutionized the understanding of the pathobiology and pathophysiology of these disorders. The models allow us to study the earliest manifestations of the diseases behaviorally and neuropathologically and help us understand how they progress over time. Additionally, neurotoxic animal models are still of high interest to the PD field, as they are being used to study e.g. mitochondrial dysfunction in PD. This book focuses on animal models of both diseases and how they have helped and will continue to help understand the behavioral neurobiology in these disorders.

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging.A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed:Movement disorders, including Parkinson's disease.Dementias, including Alzheimer's disease.Stroke.Motor neuron diseases.Neuropathies and channelopathies.Adult muscular dystrophies.Neurocutaneous syndromes.Plus a section on neurological and neuropsychological evaluation.This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

While most stem cell books focus on basic aspects and/or cell therapy, this book emphasizes the relevance of stem cells obtained from patients, the so-called “patients in a petri dish” as tools to investigate human genetic diseases for which there are no available effective treatment. Chapters embrace several examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others. The text is a current and timely resource for postgraduate students, scientists and clinicians, interested in applications of this rapidly developing field of research in disease modeling, drug development, and emerging issues that it brings to regenerative medicine.

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

The book Gamete and Embryo-fetal Origins of Adult Diseases introduces various diseases resulting from the abnormal gametogenesis and embryo development, which manifests as growth retardation, birth defects, or increased susceptibility to chronic metabolic diseases such as diabetes, cardiovascular disease and cancer in childhood and adult life, even fertility disorders and the risk of transgenerational transmission. Six common kinds of these diseases are discussed in separate chapters. The authors explore the connections between these diseases and epigenetic reprogramming, rapid cell differentiation and organ formation and environmental influences, including assisted reproductive technology and adverse intrauterine environments. With a summary of findings on the causes and progression of adult diseases at the phase of gametogenesis and embryo development, this book provides insights into the pathogenesis of disease and aids in the treatment and prevention of disease, meeting the requirement for improving the quality of the newborn population, and effectively preventing and curing major diseases at an early stage. This book offers new perspectives and will be an enlightening resource for obstetricians, paediatricians, epidemiologists, endocrinologists and sanitarians.Editor He-Feng Huang, M.D., is Professor and President of Women's Hospital, School of Medicine, Zhejiang University, China. Editor Jian-Zhong Sheng, Ph.D., is Professor at the Department of Pathology & Pathophysiology, School of Medicine, Zhejiang University, China.

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.

Award-winning physician and New York Times bestselling author Sharon Moalem, MD, PhD, reveals how genetic breakthroughs are completely transforming our understanding of both the world and our lives. Inheritance Conventional wisdom dictates that our genetic destiny is fixed at conception. But Dr. Moalem's groundbreaking book shows us that the human genome is far more fluid and fascinating than your ninth grade biology teacher ever imagined. By bringing us to the bedside of his unique and complex patients, he masterfully demonstrates what rare genetic conditions can teach us all about our own health and well-being. In the brave new world we're rapidly rocketing into, genetic knowledge has become absolutely crucial. Inheritance provides an indispensable roadmap for this journey by teaching you: -Why you may have recovered from the psychological trauma caused by childhood bullying-but your genes may remain scarred for life. -How fructose is the sugar that makes fruits sweet-but if you have certain genes, consuming it can buy you a one-way trip to the coroner's office. -Why ingesting common painkillers is like dosing yourself repeatedly with morphine-if you have a certain set of genes. -How insurance companies legally use your genetic data to predict the risk of disability for you and your children-and how that impacts the coverage decisions they make for your family. -How to have the single most important conversation with your doctor-one that can save your life. And finally: -Why people with rare genetic conditions hold the keys to medical problems affecting millions. In this trailblazing book, Dr. Moalem employs his wide-ranging and entertaining interdisciplinary approach to science and medicine-- explaining how art, history, superheroes, sex workers, and sports stars all help us understand the impact of our lives on our genes, and our genes on our lives. Inheritance will profoundly alter how you view your genes, your health--and your life.

From the Foreword by Candy Cooley, formerly Genetics Awareness Programme Lead at the NHS National Genetics and Genomics Education Centre: “What a delight it is … to read a book which takes complex scientific concepts and ensures they are understandable by all.” With activities and answers, reflection points and a glossary, this interactive textbook supports the ‘Fit for Practice in the Genetics Era'competence framework, offering an introduction to the theory of genetics and then using common genetic conditions/disorders as case studies to help students apply theory to practice and examine the service user experience. Genetics is written by an experienced teacher of health care sciences and is ideal for student nurses who need to demonstrate and apply knowledge of genetics and genomics. It is also suitable for other health care students and for qualified practitioners who would like to refresh their knowledge of the subject. From lecturer reviews: “A well written and nicely laid out genetics text at an appropriate level for adult nursing students.” “Fabulous text, student friendly.”

It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. In Saving Babies?, Stefan Timmermans and Mara Buchbinder evaluate the consequences and benefits of state-mandated newborn screening—and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, Timmermans and Buchbinder have given us the first ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns. Ideal for scholars of medicine, public health, and public policy, this book is destined to become a classic in its field.

Chapter 1 - Down Syndrome Chapter 2 - 1q21.1 Deletion Syndrome Chapter 3 - 1q21.1 Duplication Syndrome Chapter 4 - 22q11.2 Duplication Syndrome and 22q13 Deletion Syndrome Chapter 5 - Quadruple X, Pentasomy X and 49, XXXXY Syndrome Chapter 6 - Aneuploidy Chapter 7 - Cri Du Chat and Edwards Syndrome Chapter 8 - Klinefelter's Syndrome Chapter 9 - Patau Syndrome Chapter 10 - Canavan Disease Chapter 11 - Color Blindness Chapter 12 - Cystic Fibrosis Chapter 13 - Neurofibromatosis Chapter 14 - Phenylketonuria Chapter 15 - Prader–Willi Syndrome Chapter 16 - 1p36 Deletion Syndrome Chapter 17 - Alpha 1-Antitrypsin Deficiency Chapter 18 - Chronic Granulomatous Disease

Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.

advanced metastatic disease of solid tumors, dictates that each tumor mass, indeed each individual metastasis, will have a unique antigen and cytokine environment and hence unique response to immune modu­ lation. A differential response to immunotherapy is thus inevitable. 4. Many of the human trials described are not randomized and report survival or response against historical controls. Most tumors described are immunogenic human tumors: renal cell cancer and melanoma are most common. In order to avoid the well-described inter-patient vari­ ation and rare incidence of spontaneous response among patient samples as well as selection bias and changes in practice over time, randomized trials are required. 5. Immunological treatment is unlike conventional chemotherapy in its endpoint. Most chemotherapeutic regimes require a complete response or a good partial response for cure or good palliation. There are now many cases where immunotherapy has provided long-term palliation without massive tumor reduction. Immunity may be stimulated to a degree which holds tumorigenicity in check and most importantly, pro­ vides good palliation for the patient in a manner that differs essentially from chemotherapy.

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects.This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Chapter 1 - Medical Genetics Chapter 2 - Genetic Disorder Chapter 3 - Inborn Error of Metabolism Chapter 4 - Angelman Syndrome Chapter 5 - Haemophilia Chapter 6 - Sickle-Cell Disease Chapter 7 - Full Genome Sequencing Chapter 8 - Genetic Testing Chapter 9 - Gene Therapy Chapter 10 - Canavan Disease Chapter 11 - Color Blindness Chapter 12 - Cystic Fibrosis Chapter 13 - Neurofibromatosis Chapter 14 - Phenylketonuria Chapter 15 - Prader–Willi Syndrome Chapter 16 - 1p36 Deletion Syndrome Chapter 17 - Alpha 1-Antitrypsin Deficiency Chapter 18 - Chronic Granulomatous Disease Chapter 19 - Fragile X Syndrome

Human Genetics: From Molecules to Medicine provides balanced coverage of molecular and clinical genetics for the preclinical medical student with relevant examples of the application of basic science to clinical medicine. With its unique, systems-based approach ideal for integrated curricula, the text guides students through their genetics, pediatrics, and medicine rotations and will also be helpful as a pocket resource for residents in pediatrics, internal medicine, family medicine, and obstetrics. Content has been carefully adapted from the critically acclaimed German text for the English language audience.

Chapter 1 - Canavan Disease Chapter 2 - Color Blindness Chapter 3 - Cystic Fibrosis Chapter 4 - Neurofibromatosis Chapter 5 - Phenylketonuria Chapter 6 - Prader–Willi Syndrome Chapter 7 - 1p36 Deletion Syndrome Chapter 8 - Alpha 1-Antitrypsin Deficiency Chapter 9 - Chronic Granulomatous Disease Chapter 10 - Fragile X Syndrome Chapter 11 - Hereditary Nonpolyposis Colorectal Cancer Chapter 12 - Hereditary Hemorrhagic Telangiectasia Chapter 13 - Marfan Syndrome

The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.

We are in the midst of a medical revolution: in just a few years, we will be able to have our complete DNA sequenced at an affordable cost. Analysing the content of our genomes will allow a powerful estimate of our future risks of illness - from cystic fibrosis and Huntington's disease, to cancer and diabetes - which will help us devise our own personalised blueprint of preventive medicine. This will have enormous implications on everything from our day-to-day choices like diet and exercise, to childbearing and health insurance - and it may even challenge what we thought we knew about our ethnic histories. Combining cutting-edge scientific research with practical advice, Francis Collins examines this remarkable phenomenon, which will transform healthcare worldwide. We now know that the language spoken by our DNA is the language of life itself, and in this important book Collins shows how reading that language will help save lives.

The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an'unparalleled collection of knowledge.'Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition:'An unparalleled collection of knowledge... unique, offering a gold mine of information.'—American Journal of Medical Genetics

Offers essays on diseases, biology, techniques, methodologies, genetic engineering, biotechnology, ethics, and social issues. Written for health-care consumers, premedical students, public library patrons, and librarians building scientific collections.

'Provides basic consumer health information about disorders caused by gene and chromosome abnormalities and those with genetic and environmental components, genetic testing, treatment research, and guidance for parents of children with special needs. Includes index, glossary of related terms, and other resources'--Provided by publisher.