Stuttering is a complex communication disorder, characterized by dysfluent speech, that can have a profound effect on an individual’s social and mental wellbeing. Up to 11% of children commence stuttering by 4 years of age. Whilst stuttering resolves for many, a third will develop a persistent stutter. Stuttering interventions are effective for some in the preschool years; yet, there are no effective treatments for older children, adolescents or adults, and it is not possible to predict who will develop persistent stuttering. The exact causes of stuttering are still unknown, but genetic factors play an important role.

We hypothesize that common genetic variation makes a substantial contribution to the risk of stuttering and propose that this is most effectively investigated by undertaking a genome-wide association study (GWAS), using a large population-based sample of people who stutter (PWS), recruited via an online questionnaire. Crucially, so far there is no published GWAS for stuttering, a clear gap in our genetic understanding of this disorder.

We are building a global collection of PWS, recruiting adults and children through a concerted media recruitment campaign. Alongside our efforts to recruit PWS directly, we are building a global network of cohorts with information on stuttering via the GenLang Consortium. We intend to combine data from both approaches, in a large-scale GWAS meta-analysis.

Understanding the genetics of stuttering will provide insights into the underlying biology, potentially leading to stratification of stuttering into clinically relevant subtypes, targeted treatment and drug targets. This will lead to better health and socioeconomic outcomes for PWS.