Reflections from a neuroscientist-parent on attending a Down syndrome research day. Insights on gene expression, cross-disciplinary therapy advances, and how lived experience transforms science.

Down syndrome affects not just chromosome 21 but impacts gene expression across the entire genome, alters how genes are epigenetically regulated and spatially organized, causes long-lasting brain inflammation, and disrupts cellular metabolism. These interconnected changes influence brain development and function, but new therapies targeting these areas offer hope for improved cognition and health.

People have asked me about the recent clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 study where scientists...