The overall aim of the COSY project is to improve the medical care of patients with overgrowth syndromes. To this end, we intend to improve the genetic diagnosis; identify new genes involved; understand how the disease develops and progresses; identify new therapeutic targets; improve patient care (one-day-care concept); develop new imaging tools to improve patient’s follow-up; increase awareness of these syndromes within the medical community and promote a better patient integration through dissemination in appropriate communication channels.
The project started nearly at the same time as the global COVID-19 pandemic, however, it did not impact our motivation, and we have been able to move forward despite the international context. In fact, we have identified new genes in OS patients, and we are currently trying to demonstrate their contribution to the development of these syndromes. We have also made progress in understanding the molecular mechanisms of these syndromes, about which several scientific publications will be published soon. A new tool to assess patient bone abnormalities will be delivered later this year as well as new modalities for imaging analysis.
Finally, our hospital care level improved through an increasingly smoother patient journey. This first year allowed us to lay the foundations of our project.
The coming year shall see several deliverables being reached. To be continued!