• Oct 21, 2014 | Webinar

    Hereditary Multiple Exostoses

    Maurizio Pacifici, Ph.D.

    The study of rare musculoskeletal diseases is becoming increasingly popular not only because there is still much to be learned about their pathogenesis, but also because they provide opportunities to clarify and understand general biological mechanisms and principles. A case in point is the pediatric skeletal disorder Hereditary Multiple Exostoses (also known as Multiple Osteochondroma and Multiple Hereditary Exostoses). HME is caused by loss-of-function mutations in EXT1 or EXT2 that encode Golgi-associated glycosyl-polymerases responsible for the synthesis of heparan sulfate (HS). Ongoing work by several groups including ours is shedding light on how the HS deficiency leads to exostosis formation at the periphery of growth plates and what roles HS normally has in growth plate physiology and functioning and in skeletal growth. The purpose of this webinar is to provide an update on recent developments in this exciting research field and on the far-reaching biological, biomedical and therapeutic implications stemming from them.  

    Learning Objectives:

    • Understand basic biomedical and clinical aspects of HME
    • Understand the mechanisms of HS function in growth plate physiology and pathology
    • Discuss the genesis of exostoses and their transition to malignant chondrosarcoma in some patients
    • Identify plausible and possible therapies for HME

    Length: 60 minutes

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