With its 10 ERC awards, Necker Enfants Malades Institute is among the leading french biomedical Institutions that received this distinction in Europe.
Guillaume Canaud’s project is entitled: Cure the Cloves
The Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome is a genetic disorder due to a gain of function mutation of the PIK3CA in a mosaic fashion. This rare condition is associated with severe deformation and poor survival. We identified a new drug able to dramatically improve the outcome of patients with this rare disease. The purpose of the Proof of Concept grant is to better understand the molecular effect of this drug and to rapidly accede to Orphan drug designation.
Timothy Wai’s project is entitled: Mitomorphosis
Mitochondria are metabolic hubs that govern the life and death decisions of the cell. They constantly divide and fuse, shaping the form and function of these essential organelles. Abnormalities in mitochondrial shape, or morphology, have been observed in rare genetic diseases as well as common acquired disease affecting the heart, liver, and kidney, but how exactly mitochondrial morphology contributes to these metabolic dysfunctions is not understood. Thus, the Mitomorphosis ERC program will investigate the molecular regulation of mitochondrial morphology in order to uncover novel modulators and therapeutic targets in health and disease.