Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping
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Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping
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Author : Alisdair McNeill
language : en
Publisher: MDPI
Release Date : 2019-10-23
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping written by Alisdair McNeill and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-23 with Medical categories.
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.
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping
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Author : Alisdair McNeill
language : en
Publisher:
Release Date : 2019
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping written by Alisdair McNeill and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Electronic books categories.
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.
Clinical Mitochondrial Medicine
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Author : Patrick F. Chinnery
language : en
Publisher: Cambridge University Press
Release Date : 2018-05-17
Clinical Mitochondrial Medicine written by Patrick F. Chinnery and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-05-17 with Medical categories.
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Human Genetics And Genomics
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Author : Bruce R. Korf
language : en
Publisher: John Wiley & Sons
Release Date : 2012-11-19
Human Genetics And Genomics written by Bruce R. Korf and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-19 with Medical categories.
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.
Glial Physiology And Pathophysiology
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Author : Alexei Verkhratsky
language : en
Publisher: John Wiley & Sons
Release Date : 2013-01-31
Glial Physiology And Pathophysiology written by Alexei Verkhratsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-01-31 with Medical categories.
Glial Physiology and Pathophysiology provides a comprehensive, advanced text on the biology and pathology of glial cells. Coverae includes: the morphology and interrelationships between glial cells and neurones in different parts of the nervous systems the cellular physiology of the different kinds of glial cells the mechanisms of intra- and inter-cellular signalling in glial networks the mechanisms of glial-neuronal communications the role of glial cells in synaptic plasticity, neuronal survival and development of nervous system the cellular and molecular mechanisms of metabolic neuronal-glial interactions the role of glia in nervous system pathology, including pathology of glial cells and associated diseases - for example, multiple sclerosis, Alzheimer's, Alexander disease and Parkinson's Neuroglia oversee the birth and development of neurones, the establishment of interneuronal connections (the 'connectome'), the maintenance and removal of these inter-neuronal connections, writing of the nervous system components, adult neurogenesis, the energetics of nervous tissue, metabolism of neurotransmitters, regulation of ion composition of the interstitial space and many, many more homeostatic functions. This book primes the reader towards the notion that nervous tissue is not divided into more important and less important cells. The nervous tissue functions because of the coherent and concerted action of many different cell types, each contributing to an ultimate output. This reaches its zenith in humans, with the creation of thoughts, underlying acquisition of knowledge, its analysis and synthesis, and contemplating the Universe and our place in it. An up-to-date and fully referenced text on the most numerous cells in the human brain Detailed coverage of the morphology and interrelationships between glial cells and neurones in different parts of the nervous system Describes the role og glial cells in neuropathology Focus boxes highlight key points and summarise important facts Companion website with downloadable figures and slides
Inherited Metabolic Disease In Adults
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Author : Carla E. M. Hollak
language : en
Publisher: Oxford University Press
Release Date : 2016
Inherited Metabolic Disease In Adults written by Carla E. M. Hollak and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Medical categories.
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.
Case Studies In Movement Disorders
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Author : Roberto Erro
language : en
Publisher: Cambridge University Press
Release Date : 2017-04-27
Case Studies In Movement Disorders written by Roberto Erro and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-27 with Medical categories.
A thorough collection of movement disorders cases, each discussed by international experts and accompanied by illustrative video content.
Genetics And Genomics In Medicine
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Author : Tom Strachan
language : en
Publisher: Taylor & Francis
Release Date : 2014-06-02
Genetics And Genomics In Medicine written by Tom Strachan and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-06-02 with Medical categories.
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
Stroke Genetics
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Author : Hugh S. Markus
language : en
Publisher: Oxford Medical Publications
Release Date : 2003
Stroke Genetics written by Hugh S. Markus and has been published by Oxford Medical Publications this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Medical categories.
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.
Parkinson S Disease And Other Movement Disorders
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Author : Mark Edwards
language : en
Publisher: Oxford University Press, USA
Release Date : 2008
Parkinson S Disease And Other Movement Disorders written by Mark Edwards and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Medical categories.
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.