Neurodevelopmental_multi-omics
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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.
SEEK ID: https://seek.simpathic.services/studies/10
Multi-omics profiling of iPSC-derived neurons
Projects: SIMPATHIC
Study position:
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Creators and SubmitterViews: 205
Created: 16th May 2025 at 11:39
Last updated: 16th May 2025 at 12:11
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Projects: SIMPATHIC, Sandbox, IPSC
Institutions: Stichting Radboud universitair medisch centrum
https://orcid.org/0009-0006-7698-1337
Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology
Public web page: https://simpathic.eu
"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 ...
Submitter: Firdaws Badmus
Assay type: Epigenomics
Technology type: Technology Type
Investigation: Multi-omics profiling of iPSC-derived neurons
