Cytogenomic Disorders 2025

From Flesh to Bone: Understanding Fibrodysplasia Ossificans Progressiva - Team 29

Media Type: Website

Summary

While many diseases and disorders are often caused by various genetic and environmental factors, there are some diseases that can be tied back to problems with just one gene. These are called monogenic diseases. Mutations in these genes can occur sporadically, but more often, they are passed down by their parents. One such disease affecting our musculoskeletal system, which consists of our muscles and bones, is fibrodysplasia ossificans progressiva (FOP). This rare disorder causes bone formation to occur in areas where it is not supposed to. This is due to mutations in the ACVR1/ALK2 gene. These mutations overactivate the bone morphogenetic protein (BMP) signaling pathway, causing the inappropriate formation of bone in areas of soft tissues. Physicians can diagnose patients with FOP by looking at their big toes; people with FOP all have abnormal short, big toes that bend towards the second toe. The FDA has recently approved Palovarotene for FOP treatment and other drugs are still under trial. Surgery is generally not recommended, as it can cause further inappropriate bone formation. This disease was chosen to combine and apply various concepts learned in Pathology 3500 while highlighting a debilitating rare disease that is often overlooked and not talked about both in lectures and in general.

A website is used to present the key information on FOP. This website is accessible to use and learners can navigate between different pages to explore different categories such as etiology, signs and symptoms, pathogenesis, sequelae and complications, and treatment. Students are also able to apply the newly learned information through answering knowledge check questions on each of the pages. An overarching case study was also included to provide a different method of learning about the disease. ChatGPT was used to help consolidate all of our research into one cohesive case.

Keywords: Fibrodysplasia ossificans progressiva (FOP), Musculoskeletal system, ACVR1/ALK2
gene, Ossification, BMP Signaling Pathway, Rare disease