Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

A cohort of 81 neurodevelopmental disorder patients and controls demonstrates a scalable pipeline integrating interventional genetics with clinical diagnostics.

• Why it matters: This work addresses the need for rapid, personalized therapies for genetic neurodevelopmental disorders by combining diagnostic sequencing with targeted treatment development.
• What they did: The authors developed a pipeline for generating induced pluripotent stem cells directly from clinical samples, paired with neuronal induction, and demonstrated a proof of principle for creating oligonucleotide therapeutics for Kleefstra syndrome in this cohort.
• The result: This approach enables faster development of targeted therapies for NDDs and provides a model for clinical centers to incorporate interventional genetics into diagnostic workflows.