Investigations

"We will make a selection of available iPSC lines from healthy controls and three rare, genetic neurodevelopmental/neurometabolic/neuromuscular disorders: CHD2 (epileptic encaphalopathy, intellectual disability), NANS (N-acetylneuraminic acid phosphate synthase deficiency) and DM1 (myotonic dystrophy type 1). These disorders have been selected because:

-they are disorders with shared neurological symptoms and a clear unmet medical need (no approved therapy available, but several therapies in ...