Our group is dedicated to decipher the mechanisms underlying the physiopathology of overgrowth syndromes (PROS) in order to improve patient’s condition. We have been working since a long time on the PIK3/AKT/mTOR pathway in the context of kidney diseases but based on a patient experience, we have progressively moved to this new field in 2016.
In order to achieve our goal, we have 2 sides: the research laboratory and the clinic. Very importantly, we have a very strong interaction between these two entities.
The laboratory (http://canaudlab.recherche.parisdescartes.fr) is developing new in vitro and in vivo models to better understand disease progression, to identify potential biomarkers and to offer new therapeutic opportunities. To this end, we have engineered multiple genetic mouse models and we are using innovative technology to explore the molecular and structural cellular changes in overgrowth syndromes. Currently, we are trying to understand the impact of PIK3CA mutation on the fate of the different tissues (adipose tissues, bones, vessels…). To support our research, we are lucky enough to have multiple findings including European (ERCs) and Governmental grants but also from private and public Foundation supports and generous donators (i.e. US Cloves community syndrome).
From the clinical perspective (http://www.maladiesrares-necker.aphp.fr/syndromes-dhypercroissance/), we have created a unit dedicated to patient with overgrowth syndromes. We offer state of the art genotyping and the patients have access on single day to all the specialists (surgeons, geneticists, radiologists, dermatologist, endocrinologists…). This team also includes administrative assistants to organize all the medical appointments, nurses, assistant nurses, physical therapists, psychologists… We just received a EUR 10 Million grant from our Government to accelerate our development. We are seeing French but also patients coming from abroad. Every month, we have a multidisciplinary meeting to discuss all new cases as well as patients necessitating specific advices.
This is a very exciting Human adventure and if you want to join or visit us do not hesitate to contact me.