Genetically Determined Epilepsies: Perspectives in the Era of Precision Medicine PDF Download
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Author: Mario Mastrangelo
Publisher: Frontiers Media SA
ISBN: 2832505856
Category : Medical
Languages : en
Pages : 190
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Book Description
Author: Mario Mastrangelo
Publisher: Frontiers Media SA
ISBN: 2832505856
Category : Medical
Languages : en
Pages : 190
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Book Description
Author: Berge A. Minassian
Publisher:
ISBN: 9782742014880
Category : Medical
Languages : en
Pages : 0
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Book Description
Progressive myoclonus epilepsies are a group of rare genetic diseases. The onset generally occurs around puberty in otherwise healthy children. They all involve myoclonus and epilepsy but then differ depending on the different symptoms that are related. The outlook of these diseases is nearly always unfavourable and treatment only focuses on symptoms. Much planning will be needed to improve the quality of life for these children who will gradually become over time more and more severely disabled. Among these diseases, the most notable is Unverricht-Lundborg disease and Lafora disease, among others. However, the genetic mechanism of these diseases is simple and has been perfectly identified over time thanks to advancements in scientific discoveries. Hope lies in gene therapy, which in the near future will most likely be able to optimise treatment and even cure these children. This book addresses the situation by relying on clinicians descriptions, studies led by biologists on genetic variations and mutations and the work carried out daily by numerous scientists researching into treatment. By retracing the history of these diseases, from discovery and identification of mutated genes to the review of syndromes they encompass, this book marks the path we have travelled but also the distance we have yet to go.
Author: Bruce R. Korf
Publisher: John Wiley & Sons
ISBN: 1118537661
Category : Medical
Languages : en
Pages : 280
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Book Description
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.
Author: Michael Mahler
Publisher: Academic Press
ISBN: 032385432X
Category : Science
Languages : en
Pages : 302
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Book Description
Precision Medicine and Artificial Intelligence: The Perfect Fit for Autoimmunity covers background on artificial intelligence (AI), its link to precision medicine (PM), and examples of AI in healthcare, especially autoimmunity. The book highlights future perspectives and potential directions as AI has gained significant attention during the past decade. Autoimmune diseases are complex and heterogeneous conditions, but exciting new developments and implementation tactics surrounding automated systems have enabled the generation of large datasets, making autoimmunity an ideal target for AI and precision medicine. More and more diagnostic products utilize AI, which is also starting to be supported by regulatory agencies such as the Food and Drug Administration (FDA). Knowledge generation by leveraging large datasets including demographic, environmental, clinical and biomarker data has the potential to not only impact the diagnosis of patients, but also disease prediction, prognosis and treatment options. - Allows the readers to gain an overview on precision medicine for autoimmune diseases leveraging AI solutions - Provides background, milestone and examples of precision medicine - Outlines the paradigm shift towards precision medicine driven by value-based systems - Discusses future applications of precision medicine research using AI - Other aspects covered in the book include regulatory insights, data analytics and visualization, types of biomarkers as well as the role of the patient in precision medicine
Author: Klaus Schwab
Publisher: Crown Currency
ISBN: 1524758876
Category : Business & Economics
Languages : en
Pages : 194
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Book Description
World-renowned economist Klaus Schwab, Founder and Executive Chairman of the World Economic Forum, explains that we have an opportunity to shape the fourth industrial revolution, which will fundamentally alter how we live and work. Schwab argues that this revolution is different in scale, scope and complexity from any that have come before. Characterized by a range of new technologies that are fusing the physical, digital and biological worlds, the developments are affecting all disciplines, economies, industries and governments, and even challenging ideas about what it means to be human. Artificial intelligence is already all around us, from supercomputers, drones and virtual assistants to 3D printing, DNA sequencing, smart thermostats, wearable sensors and microchips smaller than a grain of sand. But this is just the beginning: nanomaterials 200 times stronger than steel and a million times thinner than a strand of hair and the first transplant of a 3D printed liver are already in development. Imagine “smart factories” in which global systems of manufacturing are coordinated virtually, or implantable mobile phones made of biosynthetic materials. The fourth industrial revolution, says Schwab, is more significant, and its ramifications more profound, than in any prior period of human history. He outlines the key technologies driving this revolution and discusses the major impacts expected on government, business, civil society and individuals. Schwab also offers bold ideas on how to harness these changes and shape a better future—one in which technology empowers people rather than replaces them; progress serves society rather than disrupts it; and in which innovators respect moral and ethical boundaries rather than cross them. We all have the opportunity to contribute to developing new frameworks that advance progress.
Author: Michelle Bureau
Publisher: John Libbey Eurotext
ISBN: 2742016090
Category : Medical
Languages : en
Pages : 2360
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Book Description
Since 1984, the year of the publication of its first edition, the famous “Blue Guide” has been the international reference for paediatricians and neuropaediatricians with regard to epileptic syndromes in infants, children and adolescents. This 6th edition reviews some of the most noteworthy developments in the field, particularly in epileptic syndromes, but also focuses on the genetic aspects of the syndromes and their development. Progress brought about by advances in neuroimaging is also discussed in addition to specific etiologies such as parasitic diseases and immune and autoimmune diseases. The different backgrounds of the contributors - coordinators and authors – ensure that the book’s longstanding reputation for objectivity and seriousness, built over almost 35 years, remain well-deserved. This book written by the current leading specialists is recognized worldwide as the international reference in epilepsy.
Author: Barbara Bardoni
Publisher: Frontiers Media SA
ISBN: 2832545653
Category : Science
Languages : en
Pages : 176
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Book Description
In partnership with the Jacques Monod Conference “Genetics, environment, signaling & synaptic plasticity in developmental brain disorders: from bench to bedside", the Frontiers in Neuroscience Journal announces an article collection that will highlight cutting-edge research presented at the 2022 meeting from Monday 11th Apr - Friday 15th Apr in Roscoff (Brittany). Neurodevelopmental Disorders (NDDs) are a highly heterogeneous group of disorders with a prevalence of 3% of the worldwide population. These disorders include Intellectual Disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder, specific learning disorder, motor and language disorder, schizophrenia, and epilepsy. Thus, NDDs are characterized by deficits in cognition, social interaction, behavior, and motor functioning as a result of abnormal brain development. Several of these phenotypes can co-exist in the same patient. Indeed, for instance, up to 50% of ASD patients display also ID. Similarly, the prevalence of epilepsy in ID patients is around 26%. This phenotypic overlap is also mirrored at the genetic and molecular levels. For instance, some pathways (e.g., Rho-GTPase, group I mGluRs, cAMP and WNT) have been found to be altered in different forms of NDDs, both of genetic and environmental origin.
Author: United States. Children's Bureau
Publisher:
ISBN:
Category : Epilepsy in children
Languages : en
Pages : 24
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Book Description
Author:
Publisher: Elsevier
ISBN: 0444633332
Category : Science
Languages : en
Pages : 346
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Book Description
The book chapters cover different aspects of epilepsy genetics, starting with the "classical" concept of epilepsies as ion channel disorders. The second part of the book gives credit to the fact that by now non-ion channel genes are recognized as equally important causes of epilepsy. The concluding chapters are designed to offer the reader insight into current methods in epilepsy research. Each chapter is self-contained and deals with a selected topic of interest. - Authors are the leading experts in the field of epilepsy research - Book covers the most important aspects of epilepsy - Interesting for both scientists and clinicians
Author: Evangel Sarwar
Publisher: Springer Nature
ISBN: 303128593X
Category : Philosophy
Languages : en
Pages : 239
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Book Description
This book presents the promises of Precision Medicine (PM) and the challenges of its implementation in daily clinical routine, while addressing the anticipated ethical and social implications. It is the first book that critically analyzes the potential and the dilemmas relevant to genomics and precision medicine from healthcare, public health and global perspectives. The nine chapters presented in this book elaborate on pharmacogenomics' crucial role in maximizing the potential benefits and minimizing medication's potential risks in groups of people, especially in cancer treatment and other health conditions. Infectious and non-communicable diseases (NCDs) are also discussed in this book by identifying challenges and ways to overcome them. Essential concepts are addressed, such as health-related benefits and harm to individuals and the broader community, including threats to individual privacy and autonomy, which warrant just distribution of scarce resources. The book also identifies and addresses the lack of competency in the healthcare workforce in the era of PM and discusses the path to laying the ethical foundation for the implementation of PM in healthcare organizations.
