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.