Michael Prize 2019
Stéphanie Baulac is a research director and group leader at Institut du Cerveau et de la Moëlle in Paris. In the field of epilepsy genetics Stéphanie Baulac must be considered as an excellent researcher, who significantly contributed to the current state-of-knowledge based on a long list of highly relevant and outstanding publications. Her studies resulted in the identification of several epilepsy genes. In this context, it needs to be emphasized that our growing understanding of epilepsy genetics significantly contributes to an improved clinical management with precise prognoses and even more importantly novel opportunities for tailored and personalized therapeutic approaches.
Stéphanie Baulac became one of the leading and very renowned researchers in the field at a relatively young age. She has dedicated her complete professional career to the improvement of our understanding of the genetic causes of epilepsies.
Stéphanie Baulac has submitted three excellent and highly relevant publications, which are focused on the identification and characterization of germline, germline/mosaic, and brain somatic mutations of DEPDC5 in focal epilepsies. As DEPDC5 serves as a negative regulator of the mTORC1 signaling pathway, loss-of-function mutations cause mTORC1 hyperactivity. Building on her previous work, the role of respective mutations in the pathophysiology of focal cortical dysplasia has also been demonstrated by the price candidate. In an elegant approach, the relevance of a clinical genetic finding with a DEPDC5 mosaic mutation was further confirmed by functional characterization of a mouse model, which has been generated based on CRIPS-Cas9 editing and in utero electroporation. This represents an outstanding example of genetic research, with which the functional implications of clinical genetic findings are further explored by experimental work.
As pointed out in one of the candidate’s publications, the findings suggest promising therapeutic avenues for treatment of drug-resistant focal epilepsy with mTORC1-targeting approaches, which are already applied in other etiologies.
The MICHAEL-PRIZE acknowledges Dr. Stéphanie Baulac for pioneering work on the identification of brain somatic second-hit mutational mechanisms in DEPDC5-related epilepsies, and the characterization of a focal and mosaic mouse model of Depdc5-deficiency recapitulating features of epilepsy associated with FCD (Baulac et al. 2015; Ribierre et al. 2018).
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