Genetics of Deafness

Description

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.

Informations

• Publié par: S. Karger AG
• Date de parution: 21 avril 2016
• Nombre de lectures: 0
• EAN13: 9783318058567
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Genetics of Deafness
Monographs in Human Genetics
Vol. 20
Series Editor
Michael Schmid Würzburg
Genetics of Deafness
Volume Editors
Barbara Vona Würzburg
Thomas Haaf Würzburg
14 figures, 4 in color, and 18 tables, 2016
_______________________ Barbara Vona, PhD Institute of Human Genetics Biocentre Julius-Maximilians-University Am Hubland DE-97074 Würzburg (Germany)
_______________________ Thomas Haaf, MD Institute of Human Genetics Biocentre Julius-Maximilians-University Am Hubland DE-97074 Würzburg (Germany)
Library of Congress Cataloging-in-Publication Data
Names: Vona, Barbara, editor. | Haaf, Thomas, editor.
Title: Genetics of deafness / volume editors, Barbara Vona, Thomas Haaf.
Other titles: Monographs in human genetics ; v. 20. 0077-0876
Description: Basel ; New York : Karger, 2016. | Series: Monographs in human genetics, ISSN 0077-0876 ; vol. 20 | Includes bibliographical references and indexes.
Identifiers: LCCN 2016009621| ISBN 9783318058550 (hard cover: alk. paper) | ISBN 9783318058567 (e-ISBN)
Subjects: | MESH: Hearing Loss--genetics
Classification: LCC RF291 | NLM WV 270 | DDC 617.8042--dc23 LC record available at http://lccn.loc.gov/2016009621

Bibliographic Indices. This publication is listed in bibliographic services, including Thomson Reuters indices.
Disclaimer. The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
© Copyright 2016 by S. Karger AG, P.O. Box, CH-4009 Basel (Switzerland)
www.karger.com
Printed in Germany on acid-free and non-aging paper (ISO 9706) by Kraft Druck, Ettlingen
ISSN 0077-0876
e-ISSN 1662-3835
ISBN 978-3-318-05855-0
e-ISBN 978-3-318-05856-7
Contents
Editorial
Schmid, M. (Würzburg)
Preface
Vona, B.; Haaf, T. (Würzburg)
Genetics and Deafness: A View from the Inside
Blankmeyer Burke, T. (Washington, D.C.); Snoddon, K. (Ottawa, Ont.); Wilkinson, E. (Winnipeg, Man.)
Hearing Loss in Older Age and Its Effect on the Individuals, Their Families and the Community
McMahon, C.M. (Sydney, N.S.W./Melbourne, Vic.)
Audiological Assessment and Management in the Era of Precision Medicine
Munro, K.J.; Newton, V.E. (Manchester); Moore, D.R. (Manchester/Cincinnati, Ohio)
Next-Generation Newborn Hearing Screening
Shen, J.; Morton, C.C. (Boston, Mass.)
Clinical Challenges in Diagnosing the Genetic Etiology of Hearing Loss
Birkeland, A.C.; Lesperance, M.M. (Ann Arbor, Mich.)
Genetic Elucidation of Nonsyndromic Hearing Loss in the High-Throughput Sequencing Era
Vona, B.; Hofrichter, M.A.H. (Würzburg); Chioza, B.A.; Crosby, A.H. (Exeter); Nanda, I.; Haaf, T. (Würzburg)
Genetic Modifiers of Hearing Loss
Yousaf, R. (Baltimore, Md.); Friedman, T.B. (Bethesda, Md.); Riazuddin, S. (Baltimore, Md.)
Genetics of Age-Related Hearing Loss
Dawes, P.; Payton, A. (Manchester)
Genetic Modifiers of Hearing Loss in Mice: The Case of Phenotypic Modification in Homozygous Cdh23 ahl Age-Related Hearing Loss
Kikkawa, Y.; Miyasaka, Y. (Tokyo/Niigata)
Using Zebrafish to Study Human Deafness and Hearing Regeneration
Varshney, G.K.; Pei, W.; Burgess, S.M. (Bethesda, Md.)
Current Understanding and Potential of Gene Therapy for Hearing Restoration in Humans
Akil, O. (San Francisco, Calif.); Lustig, L. (New York, N.Y.)
Author Index
Subject Index
Editorial
The objective of book series is to launch volumes on areas that are particularly interesting and in which there is a need for a thorough overview. Every time a new volume is published, the immediate task of editors responsible for a book series consists of finding and soliciting the assistance of one or more expert investigators to act as Guest Editors for the next volume. This is what I did when the last volume of Monographs in Human Genetics came off the press. And I did it for an unexpectedly long time, not coming to any reasonable result, but unaware of the fact that a solution was virtually present next door in our Department. During a fortuitous discussion on ongoing genetic services, I realized that a very important topic, the genetics of hearing loss, belongs to one of the main areas of interest of my colleagues Barbara Vona and Thomas Haaf. Both kindly accepted my invitation to act as Guest Editors and invited top researchers to contribute review articles. Barbara Vona took great pains in writing countless electronic messages to authors, coauthors and reviewers in order to keep this project going.
Thus, it is my great pleasure to introduce volume 20 of Monographs in Human Genetics devoted to 'Genetics of Deafness'. As with many other hereditary diseases, human genetics has achieved remarkable progress in the field of hearing loss, a condition with an extremely high world-wide prevalence. It should be reiterated here that the aim of Monographs in Human Genetics is to focus on important genetic diseases, their molecular causes and diagnosis, and their eventual prevention and clinical treatment. The present volume is a further example that meets this concept in a perfect way.
I express my deep gratitude to Barbara Vona and Thomas Haaf for all the time and manifold efforts in organizing, processing and refining all 11 chapters of this impressive book. I sincerely thank all of the internationally renowned authors who contributed highly informative manuscripts. As always, the precise and fast copy editing work of Martina Guttenbach is highly appreciated. The constant interest in and support of Monographs in Human Genetics by the publisher, Thomas Karger, motivates us to continue with this timely book series.
Michael Schmid, Würzburg
Preface
The earliest descriptions of hearing loss appear in the Edwin Smith Surgical Papyrus, the oldest known scientific document dating around 3,000 BC. The Papyrus described how temporal bone trauma and basilar skull fractures affected the hearing and speech in those wounded from battles and remarkably suggested there were even physicians specializing only in the ears. The advancement of medicine, with no exception to otology, witnessed a painfully slow evolution throughout the following centuries, and the birth of genetics would not happen until the 19th century.
Millennia later, after the emergence of modern genetics and arrival of the post-genomics era, in stark contrast to the initial descriptions of trauma-related hearing loss, it is clear that genetics is responsible for the majority of all hearing loss. As conventional genomics approaches have once again shifted, this time in favour of high-throughput sequencing, the genetics community is once again witness to a surge of data. With the availability of the fully annotated human genome, it seems the next great endeavour is annotating the variants in the human genome and understanding their underlying molecular mechanisms. We also find ourselves on the dawn of a precision medicine movement that will be heavily directed by genetics discoveries of past and present. One could assert that there has never been a more exciting time to be engaged in scientific research, more specifically auditory science research, than today.
Perhaps it is the unparalleled layers of heterogeneity epitomizing hereditary hearing loss so well or even the sheer complexity of the auditory system and its impact on language acquisition and social development that makes this such an intriguing field. Quickly developing technologies have allowed us thus far to probe questions our scientific predecessors have only envisaged. Given that hereditary hearing loss is the most common sensory deficit, major milestones have the potential to impact countless individuals.
This 20th volume of Monographs in Human Genetics is dedicated to the genetics of hearing loss. Our inspiration for its conception is to bring attention to a multifactorial and complex condition with prevalence greater than that of even Down syndrome that is oftentimes neither openly discussed nor diagnosed quickly enough and associated with ageism and other negative stereotypes. In an ever-increasing and ageing population, hearing health should be prioritized across the lifespan, as hearing loss has many broad indirect effects on the individual and society. Although it