Médecin, spécialisée en Neurologie pédiatrique depuis 2013
2018-2019: "Bourse Prof. A. Kahn" | 2017-2018 - 2019-2020: "Bourse S. et E. Freidberg-Strauss"
Identification of genetic causes of congenital myopathies through an integrated approach with a comprehensive phenotypic analysis, exome sequencing and zebrafish knock-outs
SabineCostagliola lab, IRIBHM, ULB, Campus Erasme, Brussels
The description of new phenotypes associated with known genes contributes to facilitate the diagnostic assessment and to better delineate the natural history in patients with rare diseases. The discovery of new genes opens the way to the understanding of new pathophysiological mechanisms, an essential step for the development of targeted therapies.