Pascale Fanen is a MD, PhD Full Professor of Biochemistry/ Molecular Biology at the Health Faculty of Paris-Est Creteil University, and head of the Genetic laboratory at Henri Mondor University Hospital in Creteil, France. She is co-head of the EUR-LIVE Health & Biology. Pascale Fanen is the director of the Life Sciences and Health Sciences (SVS) Doctoral School, which is multidisciplinary and mainly associates the different aspects of physiology, animal and human physiopathology and therapeutics in close link of its scientific scope. She teaches molecular genetics, molecular biology and biochemistry for medical and scientific students. She is the deputy director of GEIC2O team at IMRB “Genetic and Environmental Interactions in COPD, Cystic fibrosis and Other (rare) respiratory diseases”. Since the cloning of the CFTR gene in 1989, she has been engaged in the molecular characterization of the genetic defects in CF. Since 2011, she is also involved in other rare respiratory diseases, namely surfactant disorders, which include another ABC transporter, ABCA3.
Delestrain, C., Simon, S., Aissat, A. et al. Deciphering the mechanism of Q145H SFTPCmutation unmasks a splicing defect and explains the severity of the phenotype. Eur J Hum Genet 25, 779–782 (2017). https://doi.org/10.1038/ejhg.2017.36