Medicine » Medical Genetics

Muscular Dystrophy

Edited by Madhuri Hegde and Arunkanth Ankala, ISBN 978-953-51-0603-6, 554 pages, Publisher: InTech, Chapters published May 09, 2012 under CC BY 3.0 license
DOI: 10.5772/1242

With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies.

Dr. Madhuri Hegde

Emory University, United States of America

Dr. Hegde is an Associate Professor/ Scientific Director at Emory Genetics Laboratory in the Department of Human Genetics. She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She performed post doctoral studies at Baylor College of Medicine and is board certified in Clinical Molecular Genetics. The primary focus of her clinical work is the development of high-throughput sequencing strategies for rare disorders using sequence capture technologies, robotics, next generation sequencing, oligonucleotide array platforms, robotics and predictive analysis tools. Her research is focused on functional analysis of sequence variants in disease associated genes specifically for muscular dystrophies, with an ultimate goal of creating an algorithm for clinical interpretation of novel sequence variants. She is also involved in identifying novel disease genes using next-generation tools and a laboratory developed bridged whole exome sequencing approach.

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Edited Books

  • Muscular Dystrophy

    With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies.

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