Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models – published October 2, 2025

In this study, scientists used stem-cell technology to create laboratory models of human brain development from individuals with SMS. They found that the genetic changes that cause SMS disrupt multiple stages of brain development—from how DNA is organized and regulated inside cells to how brain cells grow, connect, and communicate with one another. The SMS brain models showed differences in growth, neuron development, and electrical activity that may help explain some of the learning, behavioral, and neurological features seen in individuals with SMS. Importantly, this research provides one of the most detailed pictures to date of how SMS affects the developing human brain and offers valuable tools for studying potential future therapies.

Here is a link to the full research article: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models: The American Journal of Human Genetics