Genetics of Bone Biology and Skeletal Disease Cover

Genetics of Bone Biology and Skeletal Disease

ISBN/ASIN: 9780123878298 | 2012 | English | pdf | 606/606 pages | 19.5 Mb
Publisher: Academic Press

The last ten years have witnessed an explosion in genomics and through its application to bone biology, the identification of novel potential targets for therapeutic interventions in bone diseases, such as osteoporosis. This textbook is therefore very timely and integrates a review of bone biology with the genetics of bone and joint disorders, parathyroid and related disorders, and vitamin D and renal diseases. The section on osteoporosis genes identified by genome-wide association studies is particularly useful and effectively summarises a subset of the at least 56 loci that have shown a robust association with BMD at genome-wide significant level and have been replicated. Although these genes explain only about 4% of the variation in BMD and cannot be used to improve fracture risk prediction, they have pinpointed many factors in critical molecular pathways in bone that provide promising candidates for novel therapeutic interventions. The section on genetic disorders of vitamin D synthesis and action elegantly shows how the study of affected children with 1a-hydroxylase deficiency and hereditary vitamin D resistant rickets continues to provide a more complete understanding of the biological role of 1,25(OH) 2 D in vivo . In conclusion, if you want to find one place to ''bone up'' on the genetics of skeletal disease, this is the book for you! –Professor Peter R Ebeling MD FRACP, The University of Melbourne, Melbourne, Australia ''This book brings together the world’s most expert bone biologists, clinicians and geneticists to provide a cutting-edge review of bone from a genetic perspective. It provides a well-written account of bone biology, genetic techniques in general, and their application to bone biology and therapeutics, both of common and esoteric conditions. It provides an accessible and comprehensive treatment of one of the most rapidly advancing areas of bone research today.'' –Prof Ian Reid, BSc, MBChB, MD, FRACP, FRSNZ, FRCP, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand

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