In-depth phenotyping and experimental therapy of Cole Carpenter Syndrome

The Cole Carpenter Syndrome (CCS) is a rare genetic disease that mainly affects the skeleton, which becomes very brittle. For this reason, patients suffering from this disease experience multiple fractures during their life. In addition, they present a wide spectrum of bone alterations that cause various and extensive skeletal deformities. All this significantly compromises the lives of these people. To date, there is no cure for this disease, so the development of a therapy for CCS patients is a very important challenge. For this reason, our goal is to better understand the mechanisms that cause CCS by using an animal model of the disease in order to develop a targeted therapy. In case of success this project will allow us to obtain a better knowledge of the CSS and an experimental therapy that could be developed for patients. Finally, our approach could also be extended to other diseases with CCS-like causes and mechanisms.