Download or read book Discovery and Characterization of Genes Responsible for Inherited Hearing Loss written by Ryan James Carlson and published by . This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hearing loss is the most common sensory dysfunction in humans, affecting 1 in 400 newborns and an estimated 27 million adults in the United States. Current treatments, such as hearing aids and cochlear implants, increase functional hearing but do not achieve complete restoration and do not address the underlying cause of hearing loss. Remaining hearing loss can substantially impact quality of life on personal, cultural, and social levels. As modern public health measures have successfully reduced rates of prenatal infection and acoustic trauma, a growing proportion of hearing loss is genetic in origin (>50%). More than 120 genes critical to mammalian hearing have been identified so far through studies based on mouse models and informative human families. Improved understanding of hearing loss genes and their resulting phenotypes will lead to better clinical care for patients with hearing impairment, yield valuable information for genetic counseling efforts, increase our understanding of the fundamental mechanisms of hearing, and provide crucial information for the development of novel therapies for hearing loss.In pursuit of these goals, I utilized massively parallel sequencing methods to identify the causes of hearing loss in individuals across various backgrounds and countries of origin. In a large cohort of pediatric hearing loss patients from the United States, I used a custom targeted sequencing panel to identify mutations in known hearing loss genes. After combining these genomic findings with longitudinal phenotypic information obtained from each participant’s audiologic care, I present informative audioprofiles for over 40 genes, quantify hearing loss progression in key genes, and identify differences in cochlear implant success based on causative gene. In multiplex families from the Middle East and US without a causative gene identified by this method, I applied whole exome and whole genome sequencing to discover other interesting candidate hearing loss genes. First, I found two different mutations in NOG in two separate families (one from Israel and the other from the US) with conductive hearing loss and features of NOG-symphalangism spectrum disorder (NOG-SSD) and characterized the effects of these mutations experimentally. Next, in a Palestinian family with congenital nonsyndromic profound hearing loss, I identified homozygous damaging mutations in ALDOC which encodes a protein involved in fructose metabolism (aldolase C). I showed that this mutation leads to severely decreased enzymatic activity in a custom in vitro assay, but that the mutation does not recreate hearing loss in CRISPR/Cas9 edited mouse line. Lastly, in another Palestinian family with congenital nonsyndromic profound hearing loss, I evaluated the effects of a first-codon missense mutation in GOSR2. This mutation caused decreased, but not absent, translation that was sufficient to avoid the severe epileptic phenotype associated with other pathogenic mutations in this gene. These findings emphasize the importance of utilizing modern genetic sequencing methods to better characterize phenotypic differences between different causative hearing loss genes and to identify additional genes involved in the biochemical processes of human hearing.
Download or read book Genetic Hearing Loss written by Patrick J. Willems and published by CRC Press. This book was released on 2003-10-17 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.
Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.
Download or read book Molecular Characterization of Genes Involved in Hearing Loss written by Barbara Vona and published by . This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Encyclopedia of Otolaryngology Head and Neck Surgery written by and published by Springer. This book was released on 2013-03-28 with total page 3082 pages. Available in PDF, EPUB and Kindle. Book excerpt: Otolaryngology Head and Neck Surgery is the medical and surgical specialty addressing disorders of the head and neck in both adult and pediatric populations. The goal of the encyclopedia is to serve as a single and comprehensive source of all the information that is essential for students and practitioners of the specialty. The vast amount of information included in the encyclopedia is divided into 5 volumes in line with the subspecialties of general otolaryngology, head and neck surgery, pediatric otolaryngology, otology–neurotology, and facial plastics. All volume editors are internationally recognized otolaryngologists with experience in publishing. Each section editor recruited experienced authors from all over the world to contribute on structured topics, and all entries are supported by published references. Thus, all information included in the encyclopedia is from credible sources and has been carefully screened for accuracy. The strength of the encyclopedia is its online availability and quick search features, which allow rapid retrieval of definitions and more in-depth information. Key words are hyperlinked to provide a gateway to numerous referenced manuscripts, journals, and books.
Download or read book The Mammalian Auditory Pathway Neuroanatomy written by Douglas B Webster and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Springer Handbook of Auditory Research presents a series of com prehensive and synthetic reviews of the fundamental topics in modem auditory research. It is aimed at all individuals with interests in hearing research including advanced graduate students, postdoctoral researchers, and clinical investigators. The volumes will introduce new investigators to important aspects of hearing science and will help established inves tigators to better understand the fundamental theories and data in fields of hearing that they may not normally follow closely. Each volume is intended to present a particular topic comprehensively, and each chapter will serve as a synthetic overview and guide to the literature. As such, the chapters present neither exhaustive data reviews nor original research that has not yet appeared in peer-reviewed journals. The series focusses on topics that have developed a solid data and con ceptual foundation rather than on those for which a literature is only beginning to develop. New research areas will be covered on a timely basis in the series as they begin to mature.
Download or read book Copy Number Variants written by Derek M. Bickhart and published by Humana Press. This book was released on 2018-07-24 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers detailed step-by-step instructions to allow beginners and experts alike to run appropriate copy number variants (CNV) detection software on a dataset of choice and discern between false positive noise and true positive CNV signals. Chapters guide readers through single nucleotide polymorphism (SNP) chips, optical mapping assembly techniques, and current open-source programs specializing in CNV detection. 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, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Copy Number Variants: Methods and Protocols aims to provide guidance to Bioinformaticians and Molecular Biologists who are interested in identifying copy number variants (CNV) with a wide variety of experimental media
Download or read book Genetics of Deafness written by B. Vona and published by Karger Medical and Scientific Publishers. This book was released on 2016-04-21 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.
Download or read book Hearing Loss Mechanisms Prevention and Cure written by Huawei Li and published by Springer. This book was released on 2019-03-26 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book systematically discusses the pathogenesis, prevention, and the current and potential clinical treatment of hearing loss, as well as the latest advances in hearing research. Hearing loss is a prevalent sensory disorder, which according to a 2015 World Health Organization (WHO) report affected 9% of the global population in 2015. As populations continue to age, more and more people are suffering from the condition, with 60% of those aged between 65 and 75 affected. Hearing loss seriously affects patients’ ability to work ability and quality of life, and as such deafness has become an increasingly urgent social problem around the globe. Sensorineural hearing loss is mainly caused by damage to the hair cells (HCs), and the subsequent loss of spiral ganglion neurons (SGNs). Damage to the HCs in the inner ear can result from exposure to loud noises and environmental and chemical toxins as well as genetic disorders, aging, and certain medications. This book provides ENT specialists and researchers, as well as individuals affected a comprehensive introduction to the field of hearing loss.
Download or read book Genetics and Hearing Loss written by Charles I. Berlin and published by Singular. This book was released on 2000 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: For clinical researchers in audiology and otolaryngology, this fifth book in the Kresge- Mirmelstein Award series features the proceedings of the 1998 symposium. The book includes contributions from leading researchers on genetic causes of hearing loss and includes a CD-ROM containing audio and video footage from a Balinese village with a large genetically deaf population that have adopted a sign language indigenous to their culture. The CD-ROM also features samples of American Sign Language and Cued Speech. In the tradition of Berlin's previous work this book presents stunning new and evocative information for both researchers and clinicians.
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Download or read book Oxford Handbook of Synesthesia written by Julia Simner and published by Oxford University Press, USA. This book was released on 2013-12 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: Synesthesia is a fascinating phenomenon which has captured the imagination of scientists and artists alike. This title brings together a broad body of knowledge about this condition into one definitive state-of-the-art handbook.
Download or read book An Excursus into Hearing Loss written by Stavros Hatzopoulos and published by BoD – Books on Demand. This book was released on 2018-05-30 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: The main objective of this volume is to diffuse the latest information related to hearing loss, which is among the most prevalent chronic disabilities worldwide. Nowadays, it is clear that the identification and rehabilitation of hearing impairment, when possible, have to be adequately and promptly managed because hearing loss can seriously interfere with psychosocial development, family dynamics, and social interactions. This book has been edited with a strong educational perspective (all chapters include an extensive introduction to their corresponding topic and an extensive glossary of terms). This book contains various materials suitable for graduate students in audiology, ENT, hearing science, and neurosciences.
Download or read book Neurodegenerative Diseases written by Shamim I. Ahmad and published by Springer Science & Business Media. This book was released on 2012-03-12 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editor of this volume, having research interests in the field of ROS production and the damage to cellular systems, has identified a number of enzymes showing ·OH scavenging activities details of which are anticipated to be published in the near future as confirmatory experiments are awaited. It is hoped that the information presented in this book on NDs will stimulate both expert and novice researchers in the field with excellent overviews of the current status of research and pointers to future research goals. Clinicians, nurses as well as families and caregivers should also benefit from the material presented in handling and treating their specialised cases. Also the insights gained should be valuable for further understanding of the diseases at molecular levels and should lead to development of new biomarkers, novel diagnostic tools and more effective therapeutic drugs to treat the clinical problems raised by these devastating diseases.
Download or read book Deafness in Dogs and Cats written by George M. Strain and published by CABI. This book was released on 2011-03-01 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Deafness in pets is a very common problem and is increasingly being presented to veterinarians, as owners and breeders become more aware and concerned about such issues. This book will provide complete coverage of the subject describing the anatomy and physiology of the auditory system, types of deafness, testing for deafness, methods of amelioration and management, behaviour of deaf animals, and other issues associated with living and dealing with deaf pets.
Download or read book The Genetic Basis of Sleep and Sleep Disorders written by Paul Shaw and published by Cambridge University Press. This book was released on 2013-10-24 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.
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.
