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Gyan Prakash (editor) - Advances in Vision Research Volume II: Genetic Eye Research in Asia and the Pacific: 1

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Gyan Prakash (editor) Advances in Vision Research Volume II: Genetic Eye Research in Asia and the Pacific: 1

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This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The books editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

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Essentials in Ophthalmology Series Editor Arun D Singh Essentials in - photo 1
Essentials in Ophthalmology
Series Editor
Arun D. Singh

Essentials in Ophthalmology aims to promote the rapid and efficient transfer of medical research into clinical practice. It is published in four volumes per year. Covering new developments and innovations in all fields of clinical ophthalmology, it provides the clinician with a review and summary of recent research and its implications for clinical practice. Each volume is focused on a clinically relevant topic and explains how research results impact diagnostics, treatment options and procedures as well as patient management.

The reader-friendly volumes are highly structured with core messages, summaries, tables, diagrams and illustrations and are written by internationally well-known experts in the field. A volume editor supervises the authors in his/her field of expertise in order to ensure that each volume provides cutting-edge information most relevant and useful for clinical ophthalmologists. Contributions to the series are peer reviewed by an editorial board.

More information about this series at http://www.springer.com/series/5332

Editors
Gyan Prakash and Takeshi Iwata
Advances in Vision Research, Volume II Genetic Eye Research in Asia and the Pacific
Editors Gyan Prakash National Eye Institute National Institutes of Health - photo 2
Editors
Gyan Prakash
National Eye Institute, National Institutes of Health, Bethesda, MD, USA
Takeshi Iwata
National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan
ISSN 1612-3212 e-ISSN 2196-890X
Essentials in Ophthalmology
ISBN 978-981-13-0883-3 e-ISBN 978-981-13-0884-0
https://doi.org/10.1007/978-981-13-0884-0
Library of Congress Control Number: 2017937303
Springer Nature Singapore Pte Ltd. 2019
This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use.
The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd.

The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore

This book Volume 2 is dedicated to the blind children of the world and the next generation of researchers who are choosing the field of vision research as their career to help understand the biology of eye diseases

Foreword by Arun D. Singh

The Asian Eye Genetics Consortium (AEGC) was established in 2014 to encourage and focus on eye disease research in Asia. With major population distribution and growth expected to occur in Asia, it is another way to approach public health aspects of ophthalmic diseases. As infectious, nutritional, and other preventable causes of vision loss and blindness are gradually overcome, less common entities such as genetic eye diseases become relevant.

With advancements in DNA sequencing, dissemination of technology, and ease of data sharing, genetic eye diseases lend themselves to exploration. AEGC focuses on studies of heretofore neglected Asian populations. The consortium under the able leadership of Gyan Prakash and Takeshi Iwata has brought together contributors from around the world.

The present monograph (second of the series) represents collective work of researchers from the Middle East, South East, and as far as New Zealand including the developed and the developing nations. The topics covered range from exfoliation syndrome, myopia, keratoconus, retinal dystrophies, and retinoblastoma providing unique Asian perspective and challenges.

It is my sincere hope that readers will find as much pleasure reading this volume as the editors and authors had in writing and editing it. If you find Genetic Eye Research in Asia and the Pacific informative, it is because (paraphrasing Isaac Newton) we have seen further, by standing on the shoulders of the giants.

Arun D. Singh
Foreword by Peter Wiedemann

Asia as the most populated region in the world is consequently the most affected with regard to eye diseases. For a long time, research has shown that genetic variations are widely involved in ocular diseases. The lack of information on the genetic basis of eye disease in the Asian population is pertinent, and the Asian Eye Genetics Consortium (AEGC) was established in 2014 to close this gap. Focusing and concentrating on research and patient care on eye disease in Asia, this institution has now grown with a worldwide membership and numerous research collaborations. In a first book published in this series Advances in Vision Research Volume 1, Genetic Research in Asia and the Pacific, the editors Dr. Gyan Prakash from NIH, NEI, USA and Dr. Takeshi Iwata from Japan tried to coordinate the findings from existing research studies on eye disease in Asians, translate them into patient care, and to identify areas for further research.

The doubling time for information in medicine is two and a half years. We benefit from the rapid evolution of basic science in all fields related to biology and medicine, and especially in relation to ophthalmology and vision. The radical advance in the understanding of inherited eye disease has placed a major responsibility on ophthalmologists in their future care of patients. Genetic research findings must be translated to impact and improve patient care at the community level.

Now, only one year after the first volume, the same editors completed this second volume of AEGC Advances in Vision Research. This book is again a milestone: An update on the AEGC and its scientific outreach is given in the first part. The challenges and opportunities for genetic research in Asia and Pacific are then described. Presenting a cross section of genetics research from different Asian countries the editors have collated a masterful and actual review of current knowledge and future demands. Key eye diseases are covered: retinal degenerations, retinoblastoma, glaucoma, myopia, and keratoconus. Assimilating and presenting this wealth of discovery the editors are to be congratulated for their focus on clinically relevant information. This makes the book a major resource for researchers and clinicians.

Light and vision have always promoted human development; loss of sight is among our most basic fears. Ninety percent of the global burden of eye disease is shouldered by developing countries, many of them in Asia. We believe there is a human right to sight and the editors must be congratulated to start and build the AEGC initiative and draw up this report to enhance eye care to people in this region. While some states of Asia have for a long time had established world-known research centers, the dispersion of genetic research into many more countries is an encouraging signal. The unconfined exchange of information between research institutions will benefit our patients in the long term. The first volume of this series was dedicated to the blind children of the world, their caregivers for the noble cause, and the vision researchers around the world who are finding the solutions to treat the blindness. By close cooperation of scientists and clinicians we will prevent common forms of blindness in the future and reduce the burden of blindness for the benefit of our children.

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