All posts tagged: Actionable Disease

Fibrodysplasia Ossificans Progressiva

Actionable Disease Insights from Bedside-to-Bench Investigation in Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of extraskeletal endochondral bone formation. Heterozygous missense gain-of-function mutations in the activin receptor A type I (ACVR1) gene are present in all individuals with sporadic or familial FOP. ACVR1R206H mutations confer increased sensitivity of this bone morphogenetic protein (BMP) family receptor to activation by BMP ligands and […]

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