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Rare diseases commonly treated at premier facilities in Baltimore

Marylanders who suffer from rare diseases don't have far to go for treatment as some of the premier facilities are in Baltimore. ....

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Wishbone Day Raises Awareness of Osteogenesis Imperfecta

DNA Science
Today, May 6th, is Wishbone Day, to raise awareness about osteogenesis imperfecta (OI).
Also known as “brittle bone disease,” OI is a consequence of mutations that disrupt the highly organized structure of collagen, a major component of connective tissues. Collagen accounts for more than half the protein in bone and cartilage, and is also part of skin, ligaments, tendons, and the dentin of teeth.
Because OI is due to a deficit of collagen, eating more calcium doesn’t help – the advice given to members of a family I wrote about here. Before many genes behind OI were identified, some parents of children with OI were suspected of child abuse, especially when a second child had fractures too. ....

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