Osteogenesis Imperfecta (OI)
Osteogenesis Imperfecta (OI) is a rare genetic disorder affecting approximately 1 in 10,000 to 1 in 20,000 people worldwide. Statistically there are ca. 500.000 people with OI, many of them have not received a formal diagnosis. OI is most commonly caused by mutations in the COL1A1 and COL1A2 genes and results in impaired bone matrix quality and reduced bone mass, leading to frequent fractures, skeletal deformities, and other connective tissue abnormalities. Many people with OI deal with pain, fatigue and other impact to their physical or emotional wellbeing.
Source: The Swiss OI Association (Permission granted)
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