Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings

Blood sampling, shot clinical characterization, WGS based trio sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures), RNA Sequencing (RNA-seq).

Hair including root will be collected from the scalp (\~15-20) and transferred to cultivation medium for the organoid cultivation