Dr. Alain Charbit
Gene therapy aims to restore the expression and function of proteins expressed by mutated genes responsible for genetic diseases. In order to assess the effectiveness of treatment, beyond improvements in the clinical setting, it is important to have molecular markers that are easily accessible and measurable in the patient. Mass spectrometry is a method for detecting and quantifying proteins which normal activity has been restored in treated patients, and / or associated biomarkers that reflect the effectiveness of gene therapy. This project aims to create methods for monitoring the effectiveness of gene therapy treatments by mass spectrometry for: sickle cell disease (SCD), spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), Netherton syndrome, Myotonic dystrophy type 1 (DM1) and certain mitochondrial diseases.
INEM (Institut Necker Enfants Malades)
160 rue de Vaugirard,