What is Fibrodysplasia Ossificans Progressiva (FOP)?
Fibrodysplasia Ossificans Progressiva, or FOP, is an ultra-rare genetic disorder that causes bone to form where it should not –outside of the skeleton and in the soft and connective tissues such as in the muscles, tendons and ligaments. Learn more about the signs, the importance of correct diagnosis and some available resources on FocusonFOP.com.
Signs of FOP
A diagnosis of FOP can be made based on some characteristic clinical signs and symptoms, such as having turned-in great toes and recurring flare-ups.
Correct FOP Diagnosis is Important
Getting an accurate diagnosis of FOP is important as it can make a big difference in how you, or your loved one’s, health is managed.
Resources
To help raise awareness of Fibrodysplasia Ossificans Progressiva (FOP), we have launched Focus on FOP – a new website with resources, facts and general rare disease information.
What is FOP?
Celebrating 15 Years since the Announcement of ACVR1 Gene
Each year, FOP Awareness Day is recognized across the globe on April 23 to mark the announcement of the ACRV1 gene discovery. First announced April 23, 2006, 2021 is the 15th anniversary of this important scientific milestone in FOP research.
FOP is caused by having a faulty copy of a gene. Scientists discovered that the gene responsible is Activin-Like Kinase 2 or ACtiVin Receptor type-1 (ALK2/ACVR1).
In people with FOP, this faulty gene leads to a malformed, overactive protein. This overactive protein leads to the formation of extra bone.
A person who is living with FOP would need to have either inherited a faulty copy of the ALK2/ACVR1 or ‘FOP gene’ from a parent with the condition or had a spontaneous mutation occur in the gene while developing in the womb. Most cases of FOP occur in people with no family history of the disease.
About the ACVR1 Gene
Uniting for FOP with the International FOP Association
This year, 11 FOP organizations across 15 countries are coming together to celebrate FOP Awareness Day with a unified, global message – Uniting for FOP.
Visit the International FOP Association’s website or follow along on their social media channels to learn more about FOP, the FOP community and how you can get involved.
Uniting for FOP