A Rare Patient Mutation May Help Lead to More Effective Treatments for Genetic Bone Disease 

Frederick Kaplan, MD, the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine in Orthopaedic Surgery at Penn Medicine, has discovered a unique patient, Andrew Davis, who despite having the genetic mutation for Fibrodysplasia ossificans progressiva (FOP), shows very moderate symptoms of the condition.   

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that causes muscles, tendons, and ligaments to gradually turn into bone tissue, limiting movement and leading to significant disabilities. Life expectancy for FOP patients is brief, with most not making it through their 50s.  

Davis’ relatively benign symptomology is attributed to low levels of the inflammatory protein MMP-9, which seems to prevent the characteristic abnormal bone formation so prevalent in other more seriously impacted FOP patients. Kaplan conducted further research on this hypothesis in mouse models, and has generated additional data showing that inhibiting MMP-9 could offer potential hope for developing a life-changing therapy for FOP patients. Read more here.

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