Genetics of Bone Biology and Skeletal Disease

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

Description

Genetics of Bone Biology and Skeletal Disease, Third Edition is a comprehensive and authoritative reference designed for students and professionals in bone biology, genetics, and related medical fields. The book begins with foundational chapters on bone biology and genetic principles, followed by disease-focused sections that thoroughly examine the clinical, molecular, and therapeutic dimensions of skeletal disorders. Organized into five major sections, it covers general background on bone structure and function, principles of genetics and epigenetics, disorders of bone and joint, parathyroid and related conditions, and vitamin D and renal disorders.

This new edition integrates significant advances in genome-wide association studies (GWAS), genomic profiling, and molecular research, highlighting progress in understanding both monogenic and polygenic bone diseases. It also addresses skeletal dysplasias, rare bone disorders, and the essential interplay between bone biology, endocrinology, and genetics, providing a complete and updated overview of the field.

• Identifies and analyzes the genetic basis of bone disorders and demonstrates the value of mouse models in elucidating disease mechanisms and evaluating treatments
• Shows how interactions between bone and joint biology, physiology, and genetics have improved the understanding of normal skeletal function
• Provides comprehensive summaries of the clinical, genetic, molecular, pathological, diagnostic, counseling, and therapeutic aspects of each disorder