SEEK ID: https://seek.simpathic.services/people/20
Location:
Netherlands
ORCID:
https://orcid.org/0009-0006-7698-1337
Joined: 12th May 2025
Expertise: Not specified
Tools: Not specified
Related items
Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology
Public web page: https://simpathic.eu
Organisms: Not specified
"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 ...
Snapshots: Snapshot 1
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.
Submitter: Firdaws Badmus
Investigation: Multi-omics profiling of iPSC-derived neurons
Assays: epigenomics
Snapshots: No snapshots
Submitter: Firdaws Badmus
Assay type: Epigenomics
Technology type: Technology Type
Investigation: Multi-omics profiling of iPSC-derived neurons
Organisms: No organisms
SOPs: No SOPs
Data files: No Data files
Snapshots: No snapshots