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This Podcast Will Kill You

Ep 132 Osteogenesis Imperfecta: All bones about it

Jan 2, 2024
Explore the genetic disorder osteogenesis imperfecta (OI) and the crucial role collagen plays in biology. Learn about the challenges and triumphs of living with OI. Discover the power of imagination and advocacy for individuals with invisible disabilities. Get a collagen fizz recipe and understand the biology of OI. Trace the first published description of a disease and the progress made in understanding OI. Discuss treatment and access to treatment for OI. Explore bone remodeling and growth and potential treatments for OI.
01:30:45

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Quick takeaways

  • The classification of osteogenesis imperfecta has expanded to include a wider range of clinical phenotypes and genetic mutations, leading to a better understanding of the disorder and potential targeted therapies.
  • The historical journey of identifying and understanding osteogenesis imperfecta has been a process of incremental progress, with early mentions of similar symptoms dating back centuries but distinct clinical descriptions emerging in the 19th century.

Deep dives

Osteogenesis imperfecta is a genetic disorder that affects collagen production, leading to brittle bones and other skeletal abnormalities.

Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder characterized by a disruption in collagen production, resulting in bones that are prone to fractures. The disorder encompasses a wide range of phenotypes, with varying degrees of bone fragility and deformities. Common symptoms include short stature, bony deformities such as leg bowing and scoliosis, blue sclera (or blue appearance of the whites of the eyes), and hearing loss. The severity of the condition can vary greatly depending on the specific mutation and its impact on collagen structure and function.

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