Fibrodysplasia ossificans progressiva (FOP) is an ultra rare disease, where soft tissues progressively turn into bone. FOP affects approximately 1 in 2 million people worldwide. This condition is caused by a mutation in the ACVR1 gene, which disrupts the body’s ability to regulate bone growth, leading to the formation of an extra-skeletal skeleton. Even minor injuries or surgeries can trigger rapid bone formation, severely limiting mobility and significantly impacting quality of life. With no known cure, FOP poses unique challenges for patients and medical professionals alike.

Join us as we take a deep dive into the world of FOP with leading experts Dr. Frederick S. Kaplan and Dr. Monal Al Mukkadam from University of Pennsylvania. 

In this episode, we’ll explore:

• The genetic underpinnings of FOP and how mutations in the ACVR1 gene lead to this condition.
• The challenges of early diagnosis 
• Current advances in research, including potential treatments and the global effort to improve patient outcomes.
• Insights into the day-to-day struggles of living with FOP and the importance of holistic care.

Tune in to gain valuable insights and join the conversation about one of the rarest and most intriguing medical conditions.