Download or read book Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping written by Alisdair McNeill and published by MDPI. This book was released on 2019-10-23 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt: The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.
Download or read book Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping written by Alisdair McNeill and published by . This book was released on 2019 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient's perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.
Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Download or read book Case Studies in Movement Disorders written by Roberto Erro and published by Cambridge University Press. This book was released on 2017-04-27 with total page 183 pages. Available in PDF, EPUB and Kindle. Book excerpt: A thorough collection of movement disorders cases, each discussed by international experts and accompanied by illustrative video content.
Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti
Download or read book Parkinson s Disease and Other Movement Disorders written by Mark Edwards and published by Oxford University Press, USA. This book was released on 2008 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: A reference on the management of Parkinson's disease and other movement disorders, this book offers practical advice on the classification and diagnosis of patients, and available treatment options.
Download or read book Stroke Genetics written by Hugh S. Markus and published by Oxford Medical Publications. This book was released on 2003 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. Anincreasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke.Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemicstroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence isreviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing apractical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.
Download or read book Animal Genomics written by Bhanu P. Chowdhary and published by S. Karger AG (Switzerland). This book was released on 2003 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication provides an update on the current status of gene maps in different livestock and pet/companion animal species. The findings summarized in species specific commentaries and original articles testify the rapid advances made in the field of animal genomics. Of significant interest is the fact that current investigations are providing headways for two important and exciting research fronts: targeted high-resolution mapping leading to the application of genomic information in addressing questions of economic and biological significance in animals, and the initiation of whole genome sequencing projects for some of the animal species. Like in humans and mice, this will set the stage for a new level of research and real time complex analysis of the genomes of these species. Animal Genomics signifies the beginning of a new era in this field and celebrates the achievements of the past 20 years of genomics research. It will be of special interest to researchers involved in genome analysis - both gross chromosomal as well as molecular - in various animal species, and to comparative and evolutionary geneticists.
Download or read book Human and Animal Models for Translational Research on Neurodegeneration Challenges and Opportunities From South America written by Agustín Ibáñez and published by Frontiers Media SA. This book was released on 2018-06-21 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurodegenerative diseases are the most frequent cause of dementia, representing a burden for public health systems (especially in middle and middle-high income countries). Although most research on this issue is concentrated in first-world centers, growing efforts in South America are affording important breakthroughs. This emerging agenda poses new challenges for the region but also new opportunities for the field. This book aims to integrate the community of experts across the globe and the region, and to establish new challenges and developments for future investigation. We present research focused on neurodegenerative research in South America. We introduce studies assessing the interplay among genetic, neural, and behavioral dimensions of these diseases, as well as articles on vulnerability factors, comparisons of findings from various countries, and works promoting multicenter and collaborative networking. More generally, our book covers a broad scope of human-research approaches (behavioral assessment, neuroimaging, electromagnetic techniques, brain connectivity, peripheral measures), animal methodologies (genetics, epigenetics, proteomics, metabolomics, other molecular biology tools), species (all human and non-human animals, sporadic, and genetic versions), and article types (original research, review, and opinion papers). Through this wide-ranging proposal, we hope to introduce a fresh approach to the challenges and opportunities of research on neurodegeneration in South America.
Download or read book Neuroacanthocytosis Syndromes II written by Ruth H. Walker and published by Springer Science & Business Media. This book was released on 2007-12-22 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: The latest research regarding the neurodegenerative conditions known as neuroacanthocytosis will be found in this book. Recent advances have identified the range of mutations in the causative genes. In vitro studies have identified potential protein interactions, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated and provide the foundation for possible therapeutic interventions.
Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
Download or read book Handbook of Developmental Disabilities written by Samuel L. Odom and published by Guilford Press. This book was released on 2009-01-21 with total page 673 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative handbook reviews the breadth of current knowledge about developmental disabilities: neuroscientific and genetic foundations; the impact on health, learning, and behavior; and effective educational and clinical practices. Leading authorities analyze what works in intervening with diverse children and families, from infancy through the school years and the transition to adulthood. Chapters present established and emerging approaches to promoting communication and language abilities, academic skills, positive social relationships, and vocational and independent living skills. Current practices in positive behavior support are discussed, as are strategies for supporting family adaptation and resilience.
Download or read book Age of Onset of Mental Disorders written by Giovanni de Girolamo and published by Springer. This book was released on 2018-11-11 with total page 261 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a thorough and critical review of current knowledge about the age of onset of mental disorders. The opening chapters offer information about the impact of the age of onset on the clinical picture, course, and outcome of physical illnesses, and about the neurobiological implications and correlates of different ages of onset. The impact and correlates of the ages of onset of all the most important mental disorders are then discussed in detail by internationally renowned scientists. The background to the book is the recognition that a better understanding of age of onset makes it possible to estimate the lifetime risk of disorders, helps to elucidate pathogenesis, and facilitates efficient, targeted clinical management. The book will be of value for clinicians, mental health professionals, mental health researchers, epidemiologists, and different stakeholders in the mental health field.
Download or read book Genome Structure and Function written by C. Nicolini and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings of the NATO Advanced Study Institute on Genome Structure and Function, held in Marciana Marina, Elba, Italy, 13-23 June 1996
Download or read book Color Atlas of Genetics written by Eberhard Passarge and published by Thieme. This book was released on 2011-01-01 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: A remarkable achievement by a single author...concise but informative...No geneticist or physician interested in genetic diseases should be without a copy of this remarkable edition. --American Journal of Medical GeneticsMore than ever, a solid understanding of genetics is a fundamental element of all medical and scientific educational programs, across virtually all disciplines. And the applications--and implications--of genetic research are at the heart of current medical scientific debates. Completely updated and revised, The Color Atlas of Genetics is an invaluable guide for students of medicine and biology, clinicians, and anyone else interested in this rapidly evolving field. The latest edition of this highly praised atlas retains several popular features, such as the accessible layout and logical structure, in addition to many novel features and 20 completely new color plates on new topics, including: Cell-to-cell communication, including important signaling and metabolic pathways Taxonomy of living organisms (tree of life) Epigenetic modifications in chromatin Apoptosis RNA interference (RNAi) Comparative genomic hybridization Origins of cancer Principles of gene and stem cell therapy, etc. With more than 200 absorbing full-color plates concisely explained on facing pages, the atlas offers readers an easy-to-use, yet remarkably detailed guide to key molecular, theoretical, and medical aspects of genetics and genomics. Brief descriptions of numerous genetic diseases are included, with references for more detailed information.Readers will find that this incomparable book presents a comprehensive picture of the field from its fascinating history to its most advanced applications.
