Brendan Lee, M.D., Ph.D. - "Genetics and Treatment of Brittle Bone Diseases"
Nov 07, 2016
from 12:00 PM to 01:00 PM
|Where||Tigem Auditorium "Vesuvius"|
|Contact Name||Nicola Brunetti-Pierri|
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Over the past three decades the study of Mendelian forms of brittle bone disease best represented by Osteogenesis Imperfecta has led to the identification of disease mechanisms that affect both the quality and quantity of bone. This has been revolutionized by next generation sequencing and whole exome analysis. They have led to the discovery of enormous genetic heterogeneity that is becoming the rule for genetic phenotypes. In the case of OI, structural mutations in the most abundant components of matrix type I collagen, protein complexes that modify and chaperone collagen, and most recently components of signaling pathways have all been implicated. Together they underscore the factors the regulate mineralization of extracellular matrix and the differentiation and function of osteoblasts, osteoclasts, and osteocytes. In so doing they have also pointed to novel therapeutic strategies that may also need to be customized based on nature and consequence of mutation. Finally, the most recent data on the mutations that affect matrix-cell signaling and cell-cell signaling point to overlap with early onset osteoporosis phenotypes.