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| exon 53 skipping therapy: Nonsense Mutation Correction in Human Diseases Fabrice Lejeune, Hana Benhabiles, Jieshuang Jia, 2016-02-26 Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine. - Features basic biological and clinical constructs that inform the application of genomic data to clinical decision-making - Includes theories and methods that can be used to link bio-molecular and clinical phenotypes so as to enable integrative hypothesis discovery, testing, and downstream evidence-based practice - Provides design patterns and use cases that contextualize the clinical decision-making and evidence-based practice relative to real world requirements and stakeholders |
| exon 53 skipping therapy: Neuromuscular Disorders of Infancy, Childhood, and Adolescence Basil T. Darras, H. Royden Jones Jr., Monique M. Ryan, Darryl C. De Vivo, 2014-12-03 Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. - Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. - Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. - Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry |
| exon 53 skipping therapy: Muscle Gene Therapy Dongsheng Duan, 2009-11-26 Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy. |
| exon 53 skipping therapy: Duchenne Muscular Dystrophy Camilla Bernardini, 2017-10-25 This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder. |
| exon 53 skipping therapy: Exon Skipping and Inclusion Therapies Toshifumi Yokota, Rika Maruyama, 2018-09-01 This book presents a comprehensive collection of detailed state-of-the-art exon skipping and splices modulation protocols. Chapters detail 14 genetic diseases, AON-mediated therapies, and CRISPR/Cas9-mediated gene editing therapies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Exon Skipping and Inclusion Therapies: Methods and Protocols aims to help researchers initiate the development of next-generation therapies. |
| exon 53 skipping therapy: Neuromuscular Disorders: Management and Treatment E-Book Tulio E. Bertorini, 2010-09-08 Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text. |
| exon 53 skipping therapy: Oligonucleotide-Based Drugs and Therapeutics Nicolay Ferrari, Rosanne Seguin, 2018-07-31 A comprehensive review of contemporary antisense oligonucleotides drugs and therapeutic principles, methods, applications, and research Oligonucleotide-based drugs, in particular antisense oligonucleotides, are part of a growing number of pharmaceutical and biotech programs progressing to treat a wide range of indications including cancer, cardiovascular, neurodegenerative, neuromuscular, and respiratory diseases, as well as other severe and rare diseases. Reviewing fundamentals and offering guidelines for drug discovery and development, this book is a practical guide covering all key aspects of this increasingly popular area of pharmacology and biotech and pharma research, from the basic science behind antisense oligonucleotides chemistry, toxicology, manufacturing, to safety assessments, the design of therapeutic protocols, to clinical experience. Antisense oligonucleotides are single strands of DNA or RNA that are complementary to a chosen sequence. While the idea of antisense oligonucleotides to target single genes dates back to the 1970's, most advances have taken place in recent years. The increasing number of antisense oligonucleotide programs in clinical development is a testament to the progress and understanding of pharmacologic, pharmacokinetic, and toxicologic properties as well as improvement in the delivery of oligonucleotides. This valuable book reviews the fundamentals of oligonucleotides, with a focus on antisense oligonucleotide drugs, and reports on the latest research underway worldwide. • Helps readers understand antisense molecules and their targets, biochemistry, and toxicity mechanisms, roles in disease, and applications for safety and therapeutics • Examines the principles, practices, and tools for scientists in both pre-clinical and clinical settings and how to apply them to antisense oligonucleotides • Provides guidelines for scientists in drug design and discovery to help improve efficiency, assessment, and the success of drug candidates • Includes interdisciplinary perspectives, from academia, industry, regulatory and from the fields of pharmacology, toxicology, biology, and medicinal chemistry Oligonucleotide-Based Drugs and Therapeutics belongs on the reference shelves of chemists, pharmaceutical scientists, chemical biologists, toxicologists and other scientists working in the pharmaceutical and biotechnology industries. It will also be a valuable resource for regulatory specialists and safety assessment professionals and an important reference for academic researchers and post-graduates interested in therapeutics, antisense therapy, and oligonucleotides. |
| exon 53 skipping therapy: Rewriting Nature Paul Enríquez, 2021-06-24 Rewriting Nature is a cogent, riveting interdisciplinary exploration of the law, science, and policy of emerging genome-editing technology. |
| exon 53 skipping therapy: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Roger N. Rosenberg, Juan M. Pascual, 2014-10-28 Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations |
| exon 53 skipping therapy: Translating Regenerative Medicine to the Clinic Jeffrey Laurence, Pedro Baptista, Anthony Atala, 2015-11-18 Translating Regenerative Medicine to the Clinic reviews the current methodological tools and experimental approaches used by leading translational researchers, discussing the uses of regenerative medicine for different disease treatment areas, including cardiovascular disease, muscle regeneration, and regeneration of the bone and skin. Pedagogically, the book concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field. It promotes cross-disciplinary communication between the sub-specialties of medicine, but remains unified in theme by emphasizing recent innovations, critical barriers to progress, the new tools that are being used to overcome them, and specific areas of research that require additional study to advance the field as a whole. Volumes in the series include Translating Gene Therapy to the Clinic, Translating Regenerative Medicine to the Clinic, Translating MicroRNAs to the Clinic, Translating Biomarkers to the Clinic, and Translating Epigenetics to the Clinic. - Encompasses the latest innovations and tools being used to develop regenerative medicine in the lab and clinic - Covers the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field - Contains extensive pedagogical updates aiming to improve the education of translational researchers in this field - Provides a transdisciplinary approach that supports cross-fertilization between different sub-specialties of medicine |
| exon 53 skipping therapy: Curing Genetic Diseases through Genome Reprogramming , 2021-06-24 Curing Genetic Diseases through Genome Reprogramming, Volume 182 captures an historic moment in the field of gene therapy—the dawn of a new age in which the dream of curing genetic diseases has become realizable. The volume presents the most clinically advanced gene therapy and genome editing approaches for the treatment of genetic diseases in specific organs, including difficult therapeutic targets, futuristic ideas of genetic interventions, and large scale human genome repair. An initial chapter addresses the complex ethical aspects involved in the very idea of modifying the human genome. - Provides a comprehensive view of gene therapy and genome editing technologies, including epigenetic editing - Describes the state-of-the-art and future directions for the treatment of genetic diseases, also considering economical aspects - Presents chapters that each give a thorough review of a specific disease, target organ or visionary approach, including ethical considerations |
| exon 53 skipping therapy: RNA Splicing and Backsplicing: Disease and Therapy Rosanna Asselta, Stefano Duga, Emanuele Buratti, Eladio Andrés Velasco, 2020-12-24 This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact. |
| exon 53 skipping therapy: Emerging Therapeutic Approaches for Cystic Fibrosis Miquéias Lopes-Pacheco, Nicoletta Pedemonte, Anthony Kicic, 2020-01-27 |
| exon 53 skipping therapy: Duchenne Muscular Dystrophy Jeffrey S. Chamberlain, Thomas A. Rando, 2006-02-27 Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease i |
| exon 53 skipping therapy: Antisense RNA Design, Delivery, and Analysis Virginia Arechavala-Gomeza, Alejandro Garanto, 2022-02-26 This open access volume gathers a variety of models, delivery systems, and approaches that can be used to assess RNA technology for exploiting antisense as a therapeutic intervention. Beginning with a section on the design of antisense technology and their delivery, the book continues by covering model systems developed to evaluate efficacy, both in vivo and in vitro, as well as methods to evaluate preclinically the toxicity associated with these new potential drugs, and intellectual property considerations. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Antisense RNA Design, Delivery, and Analysis provides basic knowledge and a large collection of methods to facilitate the work of newcomers to this vibrant and expanding field. This book was conceived thanks to the network DARTER (Delivery of Antisense RNA Therapeutics). DARTER is funded by the EU Cooperation of Science and Technology (COST), which aims to enhance interaction and collaborations between researchers in Europe and other countries. |
| exon 53 skipping therapy: Introduction to Basics of Pharmacology and Toxicology Gerard Marshall Raj, Ramasamy Raveendran, 2019-11-16 This book illustrates, in a comprehensive manner, the most crucial principles involved in pharmacology and allied sciences. The title begins by discussing the historical aspects of drug discovery, with up to date knowledge on Nobel Laureates in pharmacology and their significant discoveries. It then examines the general pharmacological principles - pharmacokinetics and pharmacodynamics, with in-depth information on drug transporters and interactions. In the remaining chapters, the book covers a definitive collection of topics containing essential information on the basic principles of pharmacology and how they are employed for the treatment of diseases. Readers will learn about special topics in pharmacology that are hard to find elsewhere, including issues related to environmental toxicology and the latest information on drug poisoning and treatment, analytical toxicology, toxicovigilance, and the use of molecular biology techniques in pharmacology. The book offers a valuable resource for researchers in the fields of pharmacology and toxicology, as well as students pursuing a degree in or with an interest in pharmacology. |
| exon 53 skipping therapy: Recent Advances in Nutrigenetics and Nutrigenomics C Bouchard, J. M. Ordovas, 2012-06-19 Recent Advances in Nutrigenetics and Nutrigenomics. |
| exon 53 skipping therapy: Molecular Biology of RNA David Elliott, Michael Ladomery, 2017-01-31 RNA plays a central, and until recently, somewhat underestimated role in the genetics underlying all forms of life on earth. This versatile molecule not only plays a crucial part in the synthesis of proteins from a DNA template, but is also intrinsically involved in the regulation of gene expression, and can even act as a catalyst in the form of a ribozyme. This latter property has led to the hypothesis that RNA - rather than DNA - could have played an essential part in the origin of life itself. This landmark text provides a systematic overview of the exciting and rapidly moving field of RNA biology. Key pioneering experiments, which provided the underlying evidence for what we now know, are described throughout, while the relevance of the subject to human disease is highlighted via frequent boxes. For the second edition of Molecular Biology of RNA, more introductory material has been incorporated at the beginning of the text, to aid students studying the subject for the first time. Throughout the text, new material has been included - particularly in relation to RNA binding domains, non-coding RNAs, and the connection between RNA biology and epigenetics. Finally, a new closing chapter discusses how exciting new technologies are being used to explore current topical areas of research. |
| exon 53 skipping therapy: Martindale Sean C. Sweetman, 2006-01-01 This is thirty-fifth edition of Martindale, which provides reliable, and evaluated information on drugs and medicines used throughout the world. It contains encyclopaedic facts about drugs and medicines, with: 5,500 drug monographs; 128,000 preparations; 40,700 reference citations; 10,900 manufacturers. There are synopses of disease treatments which enables identification of medicines, the local equivalent and the manufacturer. It also Includes herbals, diagnostic agents, radiopharmaceuticals, pharmaceutical excipients, toxins, and poisons as well as drugs and medicines. Based on published information and extensively referenced |
| exon 53 skipping therapy: Reprogramming the Genome: CRISPR-Cas-based Human Disease Therapy Vijai Singh, 2021-06-15 Reprogramming the Genome: CRISPR-Cas-based Human Disease Therapy, presents the collation of chapters written by eminent scientists worldwide. CRISPR-Cas9 is a key technology for targeted genome editing and regulation in a number of organisms including mammalian cells. It is a rapid, simple, and cost-effective solution. CRISPR-Cas system has recently gained much scientific and public attention. This volume covers CRISPR-Cas9 based mammalian genome editing, creating disease models, cancer therapy, neurological, heredity, blood disorders, defective gene correction, stem cells therapy, epigenetic modifications, patents, ethics, biosafety and regulatory issues challenges and opportunities. This book is a key source of information on mammalian genome editing available in a single volume. This book will be useful for beginners in mammalian genome editing and also students, researchers, scientists, policymakers, clinicians and stakeholders interested in genome editing in several areas. Offers basic understanding and a clear picture of mammalian genome editing through CRISPR-Cas systems Discusses how to create mammalian disease models, stem cell modification, epigenetic modifications, correction of defective gene in blood disorders, heredity, neurological disorders and many more Discusses the application of CRISPR-Cas9 systems in basic sciences, biomedicine, molecular biology, translational sciences, neurobiology, neurology, cancer, stem cells, and many more |
| exon 53 skipping therapy: Muscle Biopsy Victor Dubowitz, 1985 |
| exon 53 skipping therapy: Central Nervous System Metastases Manmeet Ahluwalia, Philippe Metellus, Riccardo Soffietti, 2019-11-05 This book provides a comprehensive overview of brain metastases, from the molecular biology aspects to therapeutic management and perspectives. Due to the increasing incidence of these tumors and the urgent need to effectively control brain metastatic diseases in these patients, new therapeutic strategies have emerged in recent years. The volume discusses all these innovative approaches combined with new surgical techniques (fluorescence, functional mapping, integrated navigation), novel radiation therapy techniques (stereotactic radiosurgery) and new systemic treatment approaches such as targeted- and immunotherapy. These combination strategies represent a new therapeutic model in brain metastatic patients in which each medical practitioner (neurosurgeon, neurologist, medical oncologist, radiation oncologist) plays a pivotal role in defining the optimal treatment in a multidisciplinary approach. Written by recognized experts in the field, this book is a valuable tool for neurosurgeons, neuro-oncologists, neuroradiologists, medical oncologists, radiation oncologists, cognitive therapists, basic scientists and students working in the area of brain tumors. |
| exon 53 skipping therapy: Animal Models in Medicine and Biology Eva Tvrdá, Sarat Chandra Yenisetti, 2020-04-08 Thanks to animal models, our knowledge of biology and medicine has increased enormously over the past decades, leading to significant breakthroughs that have had a direct impact on the prevention, management and treatment of a wide array of diseases.This book presents a comprehensive reference that reflects the latest scientific research being done in a variety of medical and biological fields utilizing animal models. Chapters on Drosophila, rat, pig, rabbit, and other animal models reflect frontier research in neurology, psychiatry, cardiology, musculoskeletal disorders, reproduction, chronic diseases, epidemiology, and pain and inflammation management. Animal Models in Medicine and Biology offers scientists, clinicians, researchers and students invaluable insights into a wide range of issues at the forefront of medical and biological progress. |
| exon 53 skipping therapy: Neurology and Pregnancy Eric A.P. Steegers, Marilyn J. Cipolla, Eliza C. Miller, 2020-08-05 Neurology and Pregnancy provides a comprehensive multidisciplinary guide to best practices for research and practicing neurologists, as well as obstetricians and other specialists caring for women with an acute or chronic neurological disorder. The book encompasses preconception care, genetic counseling, pregnancy in patients with chronic neurological disorders, and acute pregnancy-related neurological complications. Postpartum care and complications, including lactation concerns, are also addressed, as well as the long-term effects of pregnancy and its complications on maternal brain health. Vol 1 summarizes the complex neurophysiological changes in pregnancy from a basic and translational science perspective. This includes neuroimaging, principles of neuro-obstetric critical care, and ethical and medicolegal concerns, describes normal fetal cerebral development and summarizes the management of the most common prenatal neurological diagnoses. Vol 2 focuses on chronic neurological conditions in pregnancy such as epilepsy, migraine, and multiple sclerosis, as well as acute neurological disorders including preeclampsia/ eclampsia, ischemic and hemorrhagic stroke, and CNS infections. Each chapter introduction includes data on epidemiology, when applicable. In discussing management, comments of safety profiles of medications preconceptionally, during pregnancy and lactation are summarized. Each chapter includes 1-2 illustrative cases. - Encompasses both chronic and acute neurological disorders in pregnancy - Includes epilepsy, sleep disorders, MS, headaches, neuromuscular disorders - Covers spinal injury and movement disorders - Contains cerebrovascular diseases and brain tumors - Examines stroke, hemorrhage, TBI, preeclampsia and more - Supplies illustrative case study examples |
| exon 53 skipping therapy: Cardiac Diseases David C. Gaze, Aleksandar Kibel, 2021-07-28 This is the latest book in a series of cardiovascular-related texts from IntechOpen Publishing. The present volume considers general aspects of cardiac disease and is divided into three distinct sections covering cardiac risk, cardiorenal pathology, and novel interventional surgical techniques. The chapters offer insight into the current state of the art with respect to the risks of developing cardiovascular diseases, maintenance of patent vascular access in patients with the cardiorenal syndrome, and a plethora of novel interventional technologies all aimed at salvaging damaged tissue and improving prognosis and reducing mortality. This volume of 18 chapters is intended for general medical and biomedical students at both undergraduate and postgraduate level. It also offers insightful updates on recent advances in the understanding of the pathophysiology of cardiac diseases and the new techniques added to the medical armamentarium to improve the outcomes and prevent mortality and would be of interest to those working in academia and healthcare science. |
| exon 53 skipping therapy: Advanced Textbook On Gene Transfer, Gene Therapy And Genetic Pharmacology: Principles, Delivery And Pharmacological And Biomedical Applications Of Nucleotide-based Therapies (Second Edition) Daniel Scherman, 2019-07-16 This unique advanced textbook provides a clear and comprehensive overview of gene delivery, gene therapy and genetic pharmacology, with descriptions of the main gene transfer vectors and a set of selected therapeutic applications, along with safety considerations. The second edition features new groundbreaking material on genome editing using the recently discovered CRISPR/Cas9 system and on cancer immunotherapy by CAR-T cells. It also presents the historical milestone of gene therapy application in the field of severe combined immunodeficiency, and other fields of gene therapy and molecular medicine.The use of gene transfer is exponentially growing in the scientific and medical communities for day-to-day cell biology experiments and swift development of gene therapy, which is already revolutionizing medicine. In this advanced textbook, more than 30 leading scientists come together to explore these topics.This educational introduction provides the background material needed to further explore the subject as well as relevant research literature. It is an invaluable resource to Master, PhD or MD students, post-doctoral scientists or medical doctors, as well as any scientist wishing to deliver a gene or synthetic nucleotide or develop a gene therapy strategy. The second edition's simple and synthetic content will be of value to any reader interested in the biological and medical revolution derived from the elucidation of the human genome. |
| exon 53 skipping therapy: A Guide to Duchenne Muscular Dystrophy Janet Hoskin, 2017-12-14 The prognosis for individuals with Duchenne Muscular Dystrophy (DMD) is improving, with some men with DMD living into their 30s and 40s. More vital than ever, this book helps teachers and parents to support children and young people with DMD with their education and transition into adulthood. Leading experts on DMD explain Duchenne and its impact in easy-to-understand terms. Going beyond physical management, particular focus is put on learning and behavioural issues, including speech delay and difficulty learning to read, as well as common comorbid conditions, such as ADHD, autism and OCD. Raising aspirations, the book gives guidance on effective support in the classroom and advice on the transition to adulthood, employment and independent living. |
| exon 53 skipping therapy: Cardiomyopathy Gustav Mattsson, Peter Magnusson, 2021 Cardiomyopathies are diseases of the heart muscle with diverse etiologies ranging from myocarditis to gene mutations. They are classified according to morphology and function, and then further categorized based on whether they are familial or non-familial and based on specific etiologies. This book examines the various cardiomyopathies, including arrhythmogenic cardiomyopathy, hypertrophic cardiomyopathy, and dilated cardiomyopathy, as well as their genetic basis. |
| exon 53 skipping therapy: Rare Diseases Mani T. Valarmathi, 2021-09-22 A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, this book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants. |
| exon 53 skipping therapy: Nucleic Acid Drugs Akira Murakami, 2012-07-04 New Antisense Strategies: Chemical Synthesis of RNA Oligomers, by Junichi Yano und Gerald E. Smyth Development and Modification of Decoy Oligodeoxynucleotides for Clinical Application, by Mariana Kiomy Osako, Hironori Nakagami und Ryuichi Morishita Modulation of Endosomal Toll-Like Receptor-Mediated Immune Responses by Synthetic Oligonucleotides, by Ekambar R. Kandimalla und Sudhir Agrawal Delivery of Nucleic Acid Drugs, by Yan Lee und Kazunori Kataoka Aptamer: Biology to Applications, by Yoshikazu Nakamura Development and Clinical Applications of Nucleic Acid Therapeutics, by Veenu Aishwarya, Anna Kalota und Alan M. Gewirtz |
| exon 53 skipping therapy: Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease Venkataramana K Sidhaye, Michael Koval, 2017-03-09 Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease provides a one-stop resource capturing developments in lung epithelial biology related to basic physiology, pathophysiology, and links to human disease. The book provides access to knowledge of molecular and cellular aspects of lung homeostasis and repair, including the molecular basis of lung epithelial intercellular communication and lung epithelial channels and transporters. Also included is coverage of lung epithelial biology as it relates to fluid balance, basic ion/fluid molecular processes, and human disease. Useful to physician and clinical scientists, the contents of this book compile the important and most current findings about the role of epithelial cells in lung disease. Medical and graduate students, postdoctoral and clinical fellows, as well as clinicians interested in the mechanistic basis for lung disease will benefit from the books examination of principles of lung epithelium functions in physiological condition. - Provides a single source of information on lung epithelial junctions and transporters - Discusses of the role of the epithelium in lung homeostasis and disease - Includes capsule summaries of main conclusions as well as highlights of future directions in the field - Covers the mechanistic basis for lung disease for a range of audiences |
| exon 53 skipping therapy: Spinal Muscular Atrophy Charlotte J Sumner, Sergey Paushkin, Chien-Ping Ko, 2016-10-24 Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. - Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development - Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA - Includes outstanding questions and perspectives for future investigations and key references for additional detailed study |
| exon 53 skipping therapy: Mechanism and Genetic Susceptibility of Neurological Disorders Andleeb Khan, |
| exon 53 skipping therapy: Therapy in Neurology , An Issue of Neurologic Clinics E-Book Jose Biller, 2020-12-02 This issue of Neurologic Clinics, guest edited by Dr. José Biller, is devoted to Therapy in Neurology. This issue is one of four selected each year by the series Consulting Editor, Dr. Randolph W. Evan. Articles in this issue include: Update on CGRP Antagonism in the Treatment of Migraine, Advances in the Treatment of Multiple Sclerosis, Advances in the Treatment of Neuromyelitis Optica Spectrum Disorder, Advances and ongoing controversies in PFO closure and cryptogenic stroke, Advances in neuromodulation/neurostimulation in Neurology, Advances in the treatment of muscular dystrophies and motor neuron disorders, Advances in the management of small fiber neuropathies, Update in the treatment of Idiopathic Intracranial Hypertension, What is new in neuro-oncology?, Advances in the surgical management of epilepsy, Treatment of Viral Encephalitis, An update on Botulinum toxin in neurology, Cannabinoids in neurological illnesses, and Pitfalls in Transitioning Neurological Care of the Developmentally Disabled from Pediatric to Adult Providers. |
| exon 53 skipping therapy: Dystrophin Susan C. Brown, Jack A. Lucy, 1997-05-13 The absence of dystrophin is the underlying cause of Duchenne muscular dystrophy. This is the first book to address the structure, function, and distribution of dystrophin and its associated proteins in muscle and brain, rather than concentratiing primarily on the disease. It covers an exciting and rapidly expanding field that promises to have important and widespread implications for many aspects of cell biology. |
| exon 53 skipping therapy: Modified Nucleic Acids in Biology and Medicine Stefan Jurga, Volker A. Erdmann (Deceased), Jan Barciszewski, 2016-07-29 This volume is comprised of 18 chapters, covering various aspects of DNA modification and RNA modified bases. It also discusses in detail circular RNA, therapeutic oligonucleotides and their different properties. The chemical nature of DNA, RNA, protein and lipids makes these macromolecules easily modifiable, but they are also susceptible to damage from both endogenous and exogenous agents. Alkylation and oxidation show a potential to disrupt the cellular redox equilibrium and cause cellular damage leading to inflammation and even chronic disease. Furthermore, DNA damage can drive mutagenesis and the resulting DNA sequence changes can induce carcinogenesis and cancer progression. Modified nucleosides can occur as a result of oxidative DNA damage and RNA turnover, and are used as markers for various diseases. To function properly some RNA needs to be chemically modified post-transcriptionally. Dysregulation of the RNA-modification pattern or of the levels of the enzymes that catalyze these modifications alters RNA functionality and can result in complex phenotypes, likely due to defects in protein translation. While modifications are best characterized in noncoding ribonucleic acids like tRNA and rRNA, coding mRNAs have also been found to contain modified nucleosides. This book is a valuable resource, not only for graduate students but also researchers in the fields of molecular medicine and molecular biology. |
| exon 53 skipping therapy: Innovation in Clinical Trial Methodologies Peter Schueler, 2020-11-06 Innovation in Clinical Trial Methodologies: Lessons Learned during the Corona Pandemic presents a selection of updated chapters from Re-Engineering Clinical Trials that feature innovative options and methods in clinical trials. The Coronavirus pandemic is an accelerator for digitalization in many industries, including clinical trials. This book considers best practices, alternative study concepts requiring fewer patients, studies with less patient interaction, the design of virtualized protocols, and moving from data to decisions. This book will be helpful to pharmacologists, physicians and clinical researchers involved in the process of clinical development and clinical trial design. |
| exon 53 skipping therapy: Muscular Dystrophy Therapeutics Rika Maruyama, Toshifumi Yokota, 2022-11-18 This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. Written by leaders in the field, the volume explores techniques that are currently in use and are starting an exciting therapeutic revolution in muscular dystrophy. As a part of the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Muscular Dystrophy Therapeutics: Methods and Protocols serves as an ideal resource to inspire readers and provide tips, strategies, and advice to develop new therapeutic technologies for this group of diseases. |
| exon 53 skipping therapy: The APRN and PA's Complete Guide to Prescribing Drug Therapy 2024 Mari J. Wirfs, PhD, MN, APRN, ANP-BC, FNP-BC, CNE, 2024-02-15 An unrivaled reference tool for advanced practice providers and students in clinical practice settings This concise and easy-to-read drug therapy prescribing reference provides critical information for advanced practice nurses and physician assistants in clinical practice settings who are involved in the primary care management of patients with acute, episodic, and chronic health problems, life-altering and life-threatening diseases, and needs for health promotion and disease prevention. Interspersed with clinically useful information, such as monitored laboratory values, patient teaching points, and safety information, this reference draws upon data taken directly from FDA-approved drug labels and patient medication guides, and is organized by diagnosis rather than by drug classification, to provide advanced practice practitioners with the comprehensive, concise, and up-to-date information on drug therapies that they need to help achieve positive outcomes in their daily practice. The first section of this book presents drug treatment regimens for over 700 clinical diagnoses, listed alphabetically by generic name, followed by important information required for prescription decision-making. The second section provides additional information on treatment, organized in a convenient table format. An alphabetical cross-reference index of drugs allows for easy identification of alternate drug names and their location within the text. New to this Edition: Information on over 100 new diagnoses and over 100 new generic drugs indicated for the treatment of quality of life-altering and life-threatening conditions such as chronic kidney disease, genetic diseases, mesothelioma, MS, metastatic cancers, and rare diseases. Updates on drugs used for site-specific cancers, mental health issues, and commonly diagnosed diseases such as diabetes and asthma. Details on new drug approvals including indications, treatment regimens, adverse reactions, drug-drug interactions, warnings and precautions, and use in special populations Key Features: Provides new drug treatment regimens for drugs that are first in class, novel drugs, orphan drugs, new drugs with breakthrough or fast track designation and drugs with new indications and expanded social populations. Includes drug prescribing information on diseases prevalent outside of North America, including endemic diseases with known transmission and treatment interventions. Serves advanced practice providers across the United States and internationally. Consistent with approvals and recommendations for use by the FDA. |
| exon 53 skipping therapy: Muscular Dystrophy Gisela Gaina, 2020-12-23 Muscular Dystrophy - Research Update and Therapeutic Strategies is for students, researchers, and clinicians interested in muscular dystrophies who want to improve their knowledge of these complex genetic diseases. The book includes information about the genetics of various types of muscular dystrophies as well as explores new and current therapeutic strategies that aim to ameliorate symptoms and improve patients’ quality of life and life expectancy. In addition, this book reviews information on current clinical trials for muscular dystrophies and presents a framework for what to consider during the design of these trials. |
Exon 53-Skipping Therapy for DMD Demonstrates Dystrophin Express…
Mar 20, 2025 · WVE-N531 is an investigational splicing oligonucleotide with PN chemistry designed to skip exon 53 in patients with …
Exon Skipping - CureDuchenne
Exon skipping is a way to treat DMD, a genetic disorder that weakens muscles. This approach involves bypassing (or skipping …
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystr…
Exon skipping therapy targets the difference between DMD and BMD mutations. The goal is to restore the reading frame to allow …
FDA gives WVE-N531, exon 53 skipping therapy, supportive status
Aug 20, 2024 · The U.S. Food and Drug Administration (FDA) has given WVE-N531, an investigational therapy for Duchenne …
How Does Exon Skipping Work in Patients with DMD - VYONDYS 53
VYONDYS 53 uses exon-skipping technology to allow the body to make a shorter form of the dystrophin protein in some patients by …
Exon 53-Skipping Therapy for DMD Demonstrates Dystrophin …
Mar 20, 2025 · WVE-N531 is an investigational splicing oligonucleotide with PN chemistry designed to skip exon 53 in patients with DMD. An estimated 8%-10% of patients with DMD …
Exon Skipping - CureDuchenne
Exon skipping is a way to treat DMD, a genetic disorder that weakens muscles. This approach involves bypassing (or skipping over) a specific section of the genetic code, called an exon.
Current Outline of Exon Skipping Trials in Duchenne Muscular …
Exon skipping therapy targets the difference between DMD and BMD mutations. The goal is to restore the reading frame to allow DMD patients to make a BMD-like protein. Antisense …
FDA gives WVE-N531, exon 53 skipping therapy, supportive status
Aug 20, 2024 · The U.S. Food and Drug Administration (FDA) has given WVE-N531, an investigational therapy for Duchenne muscular dystrophy (DMD) patients amenable to exon 53 …
How Does Exon Skipping Work in Patients with DMD - VYONDYS 53
VYONDYS 53 uses exon-skipping technology to allow the body to make a shorter form of the dystrophin protein in some patients by skipping over a specific exon on the dystrophin gene.
VYONDYS 53 | Exon-Skipping Therapy | Healthcare Professionals …
VYONDYS 53 is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping. This …
What is exon skipping and how does it work ... - Muscular …
As the name suggests, the principle of exon skipping is to encourage the cellular machinery to ‘skip over’ an exon. Small pieces of DNA called antisense oligonucleotides (AOs) or ‘molecular …
MDA Celebrates FDA Approval of Vyondys 53 for Treatment of …
Vyondys 53 uses Sarepta Therapeutics' exon-skipping technology to target exon 53 of the DMD gene. Exon skipping is a treatment strategy in which sections of genetic code are "skipped" …
Exon-Skipping in Duchenne Muscular Dystrophy - PMC
Exon skipping to therapeutically restore the frame of an out-of-frame dystrophin mutation has taken center stage in drug development for DMD. The research reviewed here focuses on the …
Exon skipping - Action Duchenne
Exon skipping uses small drugs called antisense oligonucleotides to help cells skip over a specific exon during splicing. This allows cells to join a different set of exons together to produce a …
