R21 Research Grant

Patient-derived cells to study JdVS

Dr. Herb Lachman's NIH R21-supported work uses induced pluripotent stem cells (iPSCs) to study PPM1D truncating mutations associated with JdVS. iPSCs made from a simple blood draw can be developed into patient-specific neurons and other brain cells.

The research team developed iPSCs from people with JdVS and used CRISPR-Cas9 gene editing to recreate PPM1D mutations in control cells. These models can be developed into neurons and microglia, then studied to identify cellular pathways affected by JdVS-causing mutations and potential therapeutic directions.

This page describes the research approach and is not a recruitment notice or a clinical recommendation.