Nicky Whiffin explains how our genes function and how changes in those genes can lead to rare conditions such as ReNU Syndrome.

Human DNA contains tens of thousands of genes, many of which provide instructions for making proteins—the essential “workhorses” that enable cells to function properly. These instructions are carried out through a process where DNA is transcribed into messenger RNA (mRNA), which is then translated into proteins.

When a gene is altered, the resulting protein may not function as expected. In ReNU Syndrome, these genetic changes disrupt normal protein activity, which can interfere with critical developmental pathways—particularly those involved in brain development and cellular regulation. This disruption can lead to a range of neurological and developmental features observed in affected individuals.

To better understand these effects, researchers used CRISPR gene-editing technology to introduce specific genetic variants into cellular or model systems. This allowed scientists to replicate the exact mutation seen in individuals with ReNU Syndrome and directly observe how it alters protein function and downstream biological processes. By comparing normal and edited systems, researchers are identifing the mechanisms driving the condition.