Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025

Osteoporosis is the fourth most prevalent chronic illness with a huge burden of pain, disability and loss of independence in those affected in populations in the EU plus 2 and throughout the world.  Familial forms of Osteoporosis not only contribute to the population frequency of painful disabling osteoporosis, but discoveries made from research into the genetic heterogeneity in a group of disorders known as Osteogenesis Imperfecta first published in 1979 in the JMG have spearheaded discoveries in the prevalence, diagnosis and treatment of osteoporosis.  Today over 24 types of Osteogenesis Imperfecta and an equal number of other familial disorders with bone fragility fractures, have been delineated.  International working groups have adopted a dyadic nosology (dual naming comprising the commonly used clinical groupings plus the specific gene affected) of the many genetic bone fragility syndromes. The dyadic entities present an unparalleled opportunity for health professionals to research precision therapies for osteoporosis. (By Professor David Sillence, https://jmg.bmj.com/content/62/6/422 )

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