Fig. 1: Genomic sequencing guides the way from patient DNA to personalized medicine.

a DNA from patients diagnosed with NDDs used for sequencing; FXS Fragile X Syndrome, RS Rett Syndrome, PMDS Phelan McDermid Syndrome, DS Dravet Syndrome, AS Angelman Syndrome, ASD autism spectrum disorder. b Next-generation sequencing can be used to decipher the genetic code within exons (dark blue section—whole-exon sequencing) or throughout the entire genome (dark and light blue section—whole-genome sequencing). Mutations are identified in a series of genes with predisposition to NDDs (pink ovals). c The mutations are regenerated in models (mice, organoids, or hESC-derived neurons) in order to understand their underlying mechanism. d Disease modeling reveals targets that enable the implementation of personalized medicine. ASO (antisense oligonucleotides—gray panel) and BCAA (branched chain amino acids—beige panel) are two examples of personalized therapies probed in mouse models. mGLUR (metabotropic glutamate receptor) activity (green panel) needs to be decreased in FXS and increased in PMDS. Drug repurposing (blue panel) enables the usage of the same drug for different diseases due to novel mechanisms identified