Diseases Studied

Learn more about the diseases we study and discover how our team is working to advance research for brittle bone disorders.

Osteogenesis Imperfecta (all types) (OI)

A group of 21 rare, inherited disorders caused by 19 gene mutations resulting in fragile bones that break easily. Types I through IV are "the collagen types" - caused by abnormal type I collagen. Collagen is the most predominant protein in structural connective tissues including bones. Types V through XXI are the "non-collagen types." Symptoms include skeletal and joint deformities, chronic pain, hearing loss, a bluish tint to the sclerae (whites of the eyes), dental and respiratory problems, and, possibly, death.

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