Multi-omics profiling of iPSC-derived neurons

"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 development plus drug screens planned) that are extensively studied (preclinical and clinical research) within our center

-we generated prior evidence for the existence of disease biomarkers at different omics levels

-we generated prior evidence for functional defects in neurons (microelectrode arrays)

-for each disorder there are >3 patient lines available, and for many multiple clones per line have been frozen down

-they show a considerable degree of patient-to-patient variability. This is partly but not exclusively explained by genetic differences (SNP [CHD2] or repeat instability [DM1])"