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Elsevier

Genetics of Bone Biology and Skeletal Disease

  • 3rd Edition - March 17, 2026
  • Latest edition
  • Editors: Rajesh V. Thakker, Michael P. Whyte, John A. Eisman, Takashi Igarashi
  • Language: English

Genetics of Bone Biology and Skeletal Disease, Third Edition is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genet… Read more

Description

Genetics of Bone Biology and Skeletal Disease, Third 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.

Sections cover bone biology and structure, joint and cartilage biology, principles of endocrine regulation, the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasia, rarer bone disorders, and much more.

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
  • Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Readership

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 genetics and ‘omics


1. Introduction to genetics of skeletal and mineral metabolic diseases

2. Genome sequencing and Big Data analysis

3. Genome-wide association studies in bone mineral density: principles, practicalities, progress, and potential in bone and mineral disorders, including osteoporosis

4. Functional genomics

5. Epigenetics

6. Bone-on-chip models

7. Mouse models: approaches to generate in vivo models for hereditary disorders of mineral and skeletal homeostasis

8. Bone quality characteristics in zebrafish disease models

9. Prospects of gene therapy for skeletal diseases

10. Genetics and pharmacogenetics of osteoporosis: personalized medicine outlook

Part 2: General background to bone biology


11. Biology of bone and cartilage

12. Overview of bone structure and strength

13. Overview of joint and cartilage biology

14. Osteocyte biology

15. Bone marrow stromal cells/skeletal stem cells

16. Osteoimmunology

17. Genetics of bone fat and energy regulation

18. Central regulation of bone remodeling, genetic evidence

19. Integrating endocrine and paracrine influences on bone: lessons from parathyroid hormone and parathyroid hormone-related protein

20. The fibroblast growth factor-Klotho endocrine system in health and disease

21. Mechano-adaptation and mechano-sensing in skeletal biology

22. The hypoxia signaling pathway in the skeleton

23. Chronobiology and clock genes in bone and mineral metabolism

24. Osteoblastic cell senescence and their contribution to metabolic bone diseases

25. Fetal control of calcium and phosphate homeostasis

26. Control of mineral and skeletal homeostasis during pregnancy and lactation

Part 3: Disorders of bone and joint


27. Gene discoveries and novel therapies in monogenic low and high bone mass disorders

28. Osteogenesis imperfecta

29. Osteoarthritis: genetic studies of monogenic and complex forms

30. Skeletal dysplasias

31. Sclerosing bone dysplasias

32. Mendelian disorders of RANKL/RANK/OPG/NF-κB signaling

33. Hypophosphatasia and how alkaline phosphatase promotes mineralization

34. Fibrodysplasia ossificans progressiva

35. The melorheostoses

36. Disorders and mechanisms of ectopic calcification

Part 4: Parathyroid and related disorders


37. Hyperparathyroidism

38. Hypoparathyroidism

39. Gsα, pseudohypoparathyroidism, fibrous dysplasia, and McCune-Albright syndrome

40. Genetic disorders caused by mutations in the parathyroid hormone/parathyroid hormone-related peptide receptor, its ligands, and downstream effector molecules

41. The calcium-sensing receptor

42. Multiple endocrine neoplasia syndromes

43. Multiple endocrine and other organ neoplasia syndromes

Part 5: Vitamin D and renal disorders


44. Genetic disorders of vitamin D metabolism and action

45. X-linked hypophosphatemias

46. Autosomal hypophosphatemias

47. Genetics of hypercalciuria and kidney stones

Product details

  • Edition: 3
  • Latest edition
  • Published: March 25, 2026
  • Language: English

About the editors

RT

Rajesh V. Thakker

Professor Thakker has been May Professor of Medicine since 1999 and heads a group of scientists that investigate the pathophysiology of human diseases. This team has carried out analyses of more than 15 disorders, with identification of defective genes and functional studies that explain disease phenotypes. This resulted in the elucidation of signaling and regulatory pathways downstream of the calcium-sensing receptor and their physiological relevance; molecular mechanisms of endocrine tumor formation and potential new therapeutic targets; and molecular and cellular aspects of renal tubular physiology. Professor Thakker’s work has been internationally recognized and received awards including the Louis V. Avioli Founder’s Award from the ASBMR; the Parathyroid Medal from the FRB; the Jack W. Coburn Endowed Lectureship from the ASN; the International Research Prize from the ASBMR; and the Dale Medal from the Society for Endocrinology. Professor Thakker was elected a Fellow of the Royal Society in 2014.
Affiliations and expertise
Professor of Medicine, Nuffield Department of Medicine, University of Oxford, UK

MW

Michael P. Whyte

Michael P. Whyte, M.D. is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine, a staff member of Barnes-Jewish Hospital and St. Louis Children’s Hospital, and Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children in St. Louis, Missouri. Dr. Whyte’s research interests include the cause, outcome, and treatment of heritable disorders of bone and mineral metabolism in children and adults. Included are genetic forms of rickets such as hypophosphatasia and X-linked hypophosphatemia, brittle bone diseases like osteogenesis imperfecta, conditions that cause dense bones such as osteopetrosis, and disorders of accelerated skeletal turnover including juvenile Paget’s disease. Dr. Whyte has authored or coauthored more than 300 scientific papers or book chapters concerning these disorders.
Affiliations and expertise
Professor of Medicine, Pediatrics and Genetics, Washington University School of Medicine in St. Louis, USA

JE

John A. Eisman

John Eisman AO is Director of Clinical Translation and Advanced Education at Garvan. From 1984 to December 2011, he was Garvan's Director of Osteoporosis and Bone Biology. Professor Eisman was Editor-in-Chief of the Journal of Bone and Mineral Research, is a past member of the Board of the International Bone and Mineral Society and of the Council of the American Society for Bone and Mineral Research. He is a co-founder and past-President of the Australia and New Zealand Bone and Mineral Society. The focus of Professor Eisman’s research is the epidemiology and genetics of osteoporosis, encompassing population, family, and twin studies as well as molecular and cellular mechanisms for gene effects. His major commitment and focus are translating osteoporosis research findings to real improvements in health care delivery to the general community through the education of patients and their doctors.
Affiliations and expertise
President and CEO, National Center of Child Health and Development, Australia

TI

Takashi Igarashi

Takashi Igarashiworks in the Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai, Japan.
Affiliations and expertise
Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Mejirodai, Japan

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