WELCOME
The Institute of Functional Genomics (IGF) is a multidisciplinary research centre which is developing a project focused on the functional genomics of physiological and pathological cellular communications in the fields of neurobiology, endocrinology, oncology and cardiology.
This project is based on a multi-scale strategy from 'molecule to systems' and combines structural, biochemical, genetic, epigenetic, omics, physiological and behavioural studies. A major effort is paid to the development of single-cell studies through multiple dimensions and multi-omic approaches, that are necessary to address the complexity of life.
The project of IGF is increasingly based on translational research, promoted by the recruitment of teams of clinicians from different fields (neurovascular, diabetology, neuro-oncology and psychiatry). The objective is to identify new mechanisms and concepts in the field of cellular communications, in order to develop new therapeutic strategies and diagnostic tools.
Epilepsies & mTORpathies
Stéphanie BAULAC
ICM, Paris
Stéphanie Baulac is the co-leader of the "Genetics and physiopathology of familial epilepsies" team at the Institut du Cerveau et de la Moelle épinière (ICM) in Paris. The main objectives of her research are to attempt to unravel the molecular bases of selected forms of monogenic epilepsies and to elucidate their underlying pathophysiological mechanisms. She identified three major epilepsy genes (SCN1A (Escayg et al., 2000), GABRG2 (Baulac et al., 2001) and DEPDC5 (Ishida et al., 2013)) and elucidated the function of the non-ion channel epilepsy LGI1 gene with cellular, as well as genetic mice and rat models of Lgi1-related epilepsy (Boillot et al., 2014). Her research now focuses on the molecular signaling of DEPC5, an element of the mammalian target of rapamycin (mTOR) signaling pathway (Baulac, 2016) and a potential risk factor in defining familial focal epilepsies (Ribierre & Baulac, 2017). She has generated and characterized Depdc5-deficient rats, demonstrating that they present most features of mTORopathy models (Marsan et al. 2016).
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