Too often, promising therapeutic candidates in animal models show no efficacy in patients; how can we refine preclinical drug development in mice to hasten the discovery of cures? This is the task we take on every day. My team specializes on muscle and nerve diseases, includingMuscular Dystrophies and Amyotrophic Lateral Sclerosis (ALS); we also collaborate on rare childhood neurological conditions such asRett Syndrome or lipid and lysosomal storage disorders. We work at three stages of the drug discovery process. Upstream, we research the origins and mechanisms of the diseases by creating and studying new mouse strains that replicate the genetic mutations found in patients, specifically in ALS, Charcot-Marie-Tooth Diseases and Congenital Myasthenic Syndromes. On more established mouse models, we search and refine the best biomarkers that are truly informative of the progression of the disease and can be used in drug efficacy studies, for instance electrophysiology. Lastly, we use this knowledge of the models and best assays, to provide preclinical services and support drug development by academics, biotechs and pharmas. I am honored to have been supported, over the years, by patient foundations, and to have worked with companies who brought the first-ever approved therapy to SMA patients.
