Genetics of bone biology and skeletal disease (Second edition.)

The Second Edition of Genetics of Bone Biology and Skeletal Disease is aimed at all students of bone biology and genetics and, with this in mind, it includes general introductory chapters on bone and biology, and genetics; and more specific disease orientated chapters, which 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: 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 the 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, as well as disorders of the PTH receptor and the calcium-sensing receptor. The fifth section "Vitamin D and Renal Disorders" details the advances in the molecular and cellular advances across associated renal disorders as well as vitamin D such as rickets.

• 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 evaluations 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
• Provides both new and experienced researchers in the field with greater insight into how clinical observations and practices feed back into the research cycle, enabling them to develop more targeted genomic and proteomic assays for the improvement of bone disease