To transform the outcome and the medical care of patients with overgrowth syndromes.
COSY ( Cure Overgrowth Syndromes ) is funded by the Future Investment Program, provided by the French National Research Agency (ANR), and is scheduled to run for five years. The project comprises 11 partners, including scientists, geneticists, physicians, and industrial partners that are engaged in finding new therapeutic approaches to treat overgrowth syndromes (OS) and improving patient’s medical care.
Our main goal is to transform the outcome and the medical care of patients with overgrowth syndromes (OS). We demonstrated in an initial study focused on a particular gene called PIK3CA that we can reposition drugs initially designed for oncology, to cure specific monogenic disorders. Now, our objective is to consolidate and extend this work to other OS genetic causes.
Patients with these syndromes may have gain-of-function mutations (PIK3CA, AKT1, AKT2 or AKT3, mTOR, etc.) or loss-of-function mutations (PTEN, TSC1, TSC2, etc.). Either way, these lead to excessive activation of the mTOR pathway, a signaling pathway that plays a major role in controlling cell growth and proliferation. These mutations usually occur during embryonic development, in other words, after fertilization (mosaic), and can affect any type of tissue.