Largest Genetic Research Identifies 57 Regions Linked to Stuttering

A groundbreaking genetic analysis has shed new light on the biological foundations of stuttering, revealing 57 specific genomic regions associated with the speech disorder. Published on July 28, 2025, in Nature Genetics, this extensive study analyzed DNA data from over one million individuals provided by 23andMe, offering unprecedented insight into the genetic architecture of stuttering.

The research highlights the complex genetic underpinnings of stuttering, pointing to its association with a shared genetic framework that overlaps with conditions like autism, depression, and aspects of musicality. These findings pave the way for earlier diagnosis and potential therapeutic developments, moving away from outdated misconceptions that stigmatize individuals with speech fluency issues.

Stuttering, characterized by repetitions, prolongations, and pauses, affects more than 400 million people worldwide. Despite its prevalence, its causes have remained largely elusive. Dr. Jennifer Piper Below from Vanderbilt University emphasizes that the disorder has long been a mystery and is understudied due to its non-hospital-based nature, despite its significant impact on quality of life.

The study also underscores the influence of genetics in stuttering, a shift from historic beliefs that attributed the condition to personal or familial shortcomings. Working since the early 2000s, researchers like Dr. Below and Dr. Shelly Jo Kraft leveraged international collaborations and the extensive genetic data from 23andMe to identify genetic variants linked to stuttering. The research focused on differences between males and females, given the higher prevalence of persistent stuttering in males.

Findings include the identification of 48 genes mapped from the 57 genetic loci, with variations between sexes. The study also demonstrated the potential of polygenic risk scores—composite genetic risk assessments—to predict stuttering, especially in males.

An intriguing aspect of the research is the connection between genes associated with speech and musicality, suggesting a shared genetic foundation that influences brain pathways involved in communication and rhythm. The top gene identified, VRK2, has previously been linked to beat synchronization and language decline in Alzheimer’s disease.

These insights contribute to a growing understanding of the biological basis of stuttering, offering hope for improved diagnostics and treatments. As Dr. Dillon Pruett notes, the research aims to dispel stigma and foster new therapeutic approaches, ultimately enhancing the lives of those affected by this common speech disorder.