SIMPATHIC

"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 ...

Multi-omics analysis for rare neurodevelopmental disorders. The material consists of patient-derived IPSCs from NANS, CDH2, and DM1 patients. In some cases the genotype was rescued using CRISPR/Cas9 gene editing. The studied omics include Genomics, Transcriptomics, DNA methylation, Proteomics, Glycoproteomics, Metabolomics, and Lipidomics.