SFA RESEARCH SPRING 2022


Dr. Drayna received his bachelor’s degree from the University of Wisconsin in 1976, and his Ph.D. from Harvard University in 1981, followed by postdoctoral training at the Howard Hughes Medical Institute at the University of Utah. He joined the NIDCD in 1997, focusing on disorders of auditory pitch perception, variation in human taste perception, and disorders of voice and speech. Dr. Drayna’s work has had a major focus on the genetics and neuroscience of stuttering.


The second study was done by the same Vanderbilt, Curtin University, and Wayne State investigators, with additional collaborating investigators from the Irish Stammering Association and the University of North Carolina.


It used stuttering cases and controls from


multiple sources for a total of more than 2,000 well- studied, independently enrolled stuttering cases and 7,500 normally fluent control subjects. The same GWAS approach was used here, which found one significant association with a variant site near the SSUH2 gene. This variant appears to affect the degree to which the SSUH2 gene is turned on in muscle tissues of the esophagus. Thus, while much remains to be learned about this gene, the findings thus far point to a potentially promising connection to muscle control, a known issue in stuttering.


Jane Fraser, President of the Stuttering Foundation, commended the work saying, “The Stuttering Foundation has long been excited about genetic studies as a way to better understand the underlying causes of stuttering. We are glad to see this additional new work in the area of genetics, which will hopefully lead us to further progress.”


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