The COSY consortium was set up after collaboration from partners working together around the OS in research and clinical care. There are several long-lasting collaborations: between Guillaume (Scientific Coordinator) and Mario Pende (INSERM) who belong to the same research department and are already working together on mouse models. Stéphanie Baulac (Institut du Cerveau – ICM) and Nadia Bahi Buisson (INSERM and Assistance Publique – Hôpitaux de Paris (APHP)) belong to the same network of neuroscientists. Stéphanie Baulac and Christine Bole (Institut Imagine) have been working with IntegraGen in genomics sequencing. Nadia Bahi Buisson and Guillaume Canaud have been collaborating to organize the care of OS patients at Necker Enfants Malades. Laurent Guibaud (Hospices Civils de Lyon – HCL) has been interpreting the imaging of these patients.

Additionally, more recent collaborations have taken place: Guillaume Canaud and Laurent Guibaud have recently started to work together with the partner companies Kitware and EOS Imaging. The project is therefore a joint initiative of 11 partners to re-define a new standard of care and to offer a unique multidisciplinary service organization dedicated to OS patients. It combines all the necessary skills to propose innovative tools in physiopathology, genetics, imaging, and care reorganization. The knowledge and skills of all the PIs and industrial partners, their already established collaboration, and the affinities already developed will provide a unique opportunity to tackle the outcome of OS.

Objectives, progress and highlights of the COZY project in 2020

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!