Genetics of Bone Biology and Skeletal Disease

This book 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 evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder.

Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles.

Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease

Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays

For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

Part I: General Background to Bone Biology

1. Biology of Bone and Cartilage

Brendan Boyce, Michael Zuscik, Lianping Xing

2. Overview of Bone Structure and Strength

Mary L. Bouxsein

3. Overview of Joint and Cartilage Biology

Frank Luyten and Rik JU Lories

4. Integrating Endocrine and Paracrine Influences on Bone: Lessons from Parathyroid Hormone and Parathyroid Hormone-related Protein

T. John Martin and Natalie A. Sims

5. Energy Homeostasis and Neuronal Regulation of Bone Remodeling

Gerard Karsenty, Mathieu Ferron and Franck Oury

6. Neuropeptide Y and Bone Regulation

Paul A. Baldock

Part II: General Background to Genetics

7. Genome-wide Association Studies

Matthew Brown and Emma L. Duncan

8. Genomic Profiling in Bone

Gabriela G. Loots and Bryan D. Hudson

9. Copy Number Variation

Hong-Wen Deng, Tie-Lin Yang, Yan Guo and Christopher J. Papasian

10. Prospects of Gene Therapy

Brendan Lee, Merry ZC Ruan and Kilian Guse

11. Pharmacogentics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook

Tuan V. Nguyen and John A. Eisman

12. Genetic Testing & Counselling

Ingrid A. Holm, Christina M. Jacobsen, Yiping Shen and Stephanie J. Brewster

13. Mouse models: Approaches to Generating in vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis

Sian E. Piret and Rajesh V. Thakker

14. Fetal Control of Calcium and Phosphate Homeostasis – Lessons from Mouse Models

Christopher S. Kovacs

15. Control of Skeletal Homeostasis during Pregnancy and Lactation – Lessons from Physiological Models

Christopher S. Kovacs

Part III: Disorders of Bone and Joint

16. Osteogenesis Imperfecta

Joan Marini and M. Helen Rajpar

17. Osteoporosis Genes Identified by Genome-wide Association Studies

Andre Uitterlinden and Fernando Rivadenerira

18. Osteoarthritis – Genetic Studies of Monogenic and Complex Forms

Ana M. Valdes

19. Paget’s Disease

Stuart H. Ralston and Omar M.E. Albagha

20. Heritable Disorders of RANKL, OPG, RANK and NF-KB Signalling

Michael Whyte

21. Skeletal Dysplasias

William G. Cole

22. Hypophosphatasia

Michael P. Whyte

23. Sclerosing Bone Disorders

Bram Perdu and Wim Van Hul

24. Fibrodysplasia (Myositis) Ossificans Progressiva

Andria L. Culbert, Salin A. Chakkalakal, Michael R. Convente, Vitali Y. Lounev, Frederick S. Kaplan and Eileen M. Shore

Part IV: Parathyroid and Related Disorders

25. Hyperparathyroidism

Andrew Arnold and Jessica Costa-Guda

26. Hypoparathyroidism

Rajesh V. Thakker

27. G_sa, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome

Lee S. Weinstein, Allen M. Spiegel and Michael Collins

28. Genetic disorders affecting PTH/PTHrP receptor function

Harald Jueppner and Caroline Silve

29. Genetically Determined Disorders of the Calcium-Sensing Receptor

Edward M. Brown and Ogo I. Egbuna

30. Multiple Endocrine Neoplasia Type 1 (MEN1)

Rajesh V. Thakker

31. Multiple Endocrine Neoplasia Type 2 (MEN2)

Bruce Robinson, Rory Clifton-Bligh and Matti Gild

Part V: Vitamin D and Renal Disorders

32. Heritable Renal Phosphate Wasting Disorders

Marc K. Drezner

33. Genetic Disorders of Vitamin D Synthesis and Action

David Feldman, Peter Malloy and Walter L. Miller

34. Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome

Olivier Devuyst and Takashi Igarashi

35. Inherited Magnesium Disorders

Scott J. Schurman, Dhruval Patel, Anil Singh and Steven J. Scheinman

36. Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones

David Bushinsky and Orson W. Moe