Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease

2nd Edition - October 31, 2017

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  • Editors: Rajesh Thakker, Michael Whyte, John Eisman, Takashi Igarashi
  • Hardcover ISBN: 9780128041826
  • eBook ISBN: 9780128041987

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Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets.

Key Features

  • Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments
  • Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders
  • Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder


Researchers, practitioners, graduate students and medical fellows studying or treating patients with bone, joint, and related endocrine diseases

Table of Contents

  • Part 1: General Background to Bone Biology
    Part 2: General Background to Genetics
    Part 3: Disorders of Bone and Joint
    Part 4: Parathyroid and Related Disorders
    Part 5: Vitamin and Renal Disorders

Product details

  • No. of pages: 878
  • Language: English
  • Copyright: © Academic Press 2017
  • Published: October 31, 2017
  • Imprint: Academic Press
  • Hardcover ISBN: 9780128041826
  • eBook ISBN: 9780128041987

About the Editors

Rajesh Thakker

Rajesh Vasantlal Thakker FRS FMedSci FRCPath FRCPE FRCP is May Professor of Medicine in the Nuffield Department of Clinical Medicine at the University of Oxford and a Fellow of Somerville College, Oxford.[13] Thakker is also a Consultant physician at the Churchill Hospital and the John Radcliffe Hospital, Principal Investigator (PI) at the Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) and was Chairman of the Efficacy and Mechanism Evaluation (EME) Board until Spring 2016.

Affiliations and Expertise

May Professor of Medicine, Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford; Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK

Michael Whyte

Affiliations and Expertise

Professor of Medicine, Pediatrics, and Genetics, Washington University, School of Medicine; Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, USA

John Eisman

Affiliations and Expertise

Director of Bone Research Program, Garvan Institute of Medical Research, Professor of Medicine, University of New South Wales, Australia

Takashi Igarashi

Affiliations and Expertise

Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai, Japan

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  • Pavel N. Tue May 15 2018

    Genetics of Bone Biology and Skeletal Diseases