Genetics of Bone Biology and Skeletal Disease

<p>PART 1: GENERAL BACKGROUND TO GENETICS AND ‘OMICS<br>1. Introduction to Genetics of Skeletal and Mineral Metabolic Diseases<br>2. Genome-Sequencing and Big data analysis<br>3. Genome-Wide Association Studies<br>4. Epigenetics<br>5. Multi-omics approaches in bone research<br>6. Functional Genomics<br>7. Organ-on-Chips<br>8. Mouse Models: Approaches to Generate In Vivo Models for Hereditary Disorders of Mineral and Skeletal<br>9. Emerging therapeutic approaches (including gene therapy) for Skeletal Diseases<br>10. Pharmacogenetics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook<br>11. Drug discovery in the era of cryo-electron microscopy (cryoEM)<br><br>PART 2: GENERAL BACKGROUND TO BONE BIOLOGY<br>12. Biology of Bone and Cartilage<br>13. Overview of Bone Structure and Strength<br>14. Overview of Joint and Cartilage Biology<br>15. Osteocyte Biology<br>16. Skeletal Stem Cells/Bone Marrow Stromal Cells<br>17. Osteoimmunology<br>18. Senescence in Bone Disease<br>19. Chronobiology and clock genes, relevance to musculoskeletal health<br>20. Mechano-sensing in skeletal biology<br>21. Hypoxia signalling bone and cartilage<br>22. Integrating Endocrine and Paracrine Influences on Bone; Lessons from Parathyroid Hormone and Parathyroid<br>23. Genetics of Bone Fat and Energy Regulation<br>24. The Cross Talk Between the Central Nervous System, Bone, and Energy Metabolism<br>25. Fetal Control of Calcium and Phosphate Homeostasis<br>26. Control of Mineral and Skeletal Homeostasis During Pregnancy and Lactation<br><br>PART 3: DISORDERS OF BONE AND JOINT<br>27. Gene discoveries and novel therapies in monogenic low and high bone mass disorders.<br>28. Osteoporosis<br>29. Osteogenesis Imperfecta<br>30. Osteoarthritis: Genetic Studies of Monogenic and Complex Forms<br>31. Mendelian Disorders of RANKL/OPG/RANK/NF-κB Signalling<br>32. Skeletal Dysplasias<br>33. Hypophosphatasia and How Alkaline Phosphatase Promotes Mineralization<br>34. Sclerosing Bone Dysplasias<br>35. Melorheostosis<br>36. Fibrodysplasia (Myositis) Ossificans Progressiva<br>37. Craniosynostosis<br>38. Disorders and Mechanisms of Ectopic Calcification<br>39. Thyroid Hormone in Bone and Joint Disorders<br><br>PART 4: PARATHYROID AND RELATED DISORDER<br>40. Hyperparathyroidism<br>41. Hypoparathyroidism<br>42. Gsα, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune–Albright Syndrome<br>43. Genetic Disorders Caused by Mutations in the PTH/PTHrP Receptor, its Ligands, and Downstream Effector Molecules<br>44. Genetically Determined Disorders of Extracellular Calcium (Cao2+) Sensing and Cao2+ Homeostasis<br>45. Multiple Endocrine Neoplasia Syndromes<br><br>PART 5: VITAMIN D AND RENAL DISORDERS<br>46. Genetic Disorders of Vitamin D Synthesis and Action<br>47. X-linked hypophosphataemia<br>48. Heritable Renal Phosphate Wasting Disorders<br>49. Genetics of Hypercalciuria and Kidney Stones</p>