Genetics of Bone Biology and Skeletal Disease

3rd Edition - May 1, 2025
Editors: Rajesh V. Thakker, Michael P. Whyte, John Eisman, Takashi Igarashi
Language: English
Hardback ISBN:
9 7 8 - 0 - 4 4 3 - 1 3 6 8 3 - 2
eBook ISBN:
9 7 8 - 0 - 4 4 3 - 1 3 6 8 4 - 9

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

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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.

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

4. Epigenetics

5. Multi-omics approaches in bone research

6. Functional Genomics

7. Organ-on-Chips

8. Mouse Models: Approaches to Generate In Vivo Models for Hereditary Disorders of Mineral and Skeletal

9. Emerging therapeutic approaches (including gene therapy) for Skeletal Diseases

10. Pharmacogenetics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook

11. Drug discovery in the era of cryo-electron microscopy (cryoEM)

PART 2: GENERAL BACKGROUND TO BONE BIOLOGY

12. Biology of Bone and Cartilage

13. Overview of Bone Structure and Strength

14. Overview of Joint and Cartilage Biology

15. Osteocyte Biology

16. Skeletal Stem Cells/Bone Marrow Stromal Cells

17. Osteoimmunology

18. Senescence in Bone Disease

19. Chronobiology and clock genes, relevance to musculoskeletal health

20. Mechano-sensing in skeletal biology

21. Hypoxia signalling bone and cartilage

22. Integrating Endocrine and Paracrine Influences on Bone; Lessons from Parathyroid Hormone and Parathyroid

23. Genetics of Bone Fat and Energy Regulation

24. The Cross Talk Between the Central Nervous System, Bone, and Energy Metabolism

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. Osteoporosis

29. Osteogenesis Imperfecta

30. Osteoarthritis: Genetic Studies of Monogenic and Complex Forms

31. Mendelian Disorders of RANKL/OPG/RANK/NF-κB Signalling

32. Skeletal Dysplasias

33. Hypophosphatasia and How Alkaline Phosphatase Promotes Mineralization

34. Sclerosing Bone Dysplasias

35. Melorheostosis

36. Fibrodysplasia (Myositis) Ossificans Progressiva

37. Craniosynostosis

38. Disorders and Mechanisms of Ectopic Calcification

39. Thyroid Hormone in Bone and Joint Disorders

PART 4: PARATHYROID AND RELATED DISORDER

40. Hyperparathyroidism

41. Hypoparathyroidism

42. Gsα, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune–Albright Syndrome

43. Genetic Disorders Caused by Mutations in the PTH/PTHrP Receptor, its Ligands, and Downstream Effector Molecules

44. Genetically Determined Disorders of Extracellular Calcium (Cao2+) Sensing and Cao2+ Homeostasis

45. Multiple Endocrine Neoplasia Syndromes

PART 5: VITAMIN D AND RENAL DISORDERS

46. Genetic Disorders of Vitamin D Synthesis and Action

47. X-linked hypophosphataemia

48. Heritable Renal Phosphate Wasting Disorders

49. Genetics of Hypercalciuria and Kidney Stones

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

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

John 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

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