Scientific Article 🇬🇧 Directly KS related

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders

person Julia Macintosh et al., The American Journal of Human Genetics

calendar_today Sep 30, 2026

This scientific article describes a pipeline linking rapid genetic diagnosis with patient-derived stem cells, lab-grown neurons, and in vitro screening of oligonucleotide therapies for neurodevelopmental disorders. In 81 probands, the authors present the approach and report a proof of principle for Kleefstra syndrome; this is laboratory-stage work, not a proven treatment.