Gene Discoveries Give New Hope to People Who Stutter
upstart writes:
Gene discoveries give new hope to people who stutter:
There is no known cure, and existing treatments are often minimally effective. Yet for those with persistent, developmental stuttering, there is new hope, thanks to groundbreaking research led by scientists at Vanderbilt University Medical Center in Nashville, Tennessee, and Wayne State University in Detroit, Michigan.
In two papers published this week, Jennifer "Piper" Below, PhD, and Shelly Jo Kraft, PhD, describe a "genetic architecture" for developmental stuttering and report the discovery of new genetic variations associated with the condition.
The researchers said that these findings, which were published in The American Journal of Human Genetics and Human Genetics and Genomics Advances, and studies like them have the potential to identify therapeutic directions that could improve outcomes for people who stutter.
"It's clear that in populations, stuttering is polygenic, meaning that there are multiple different genetic factors contributing to and protecting people from risk," said Below, associate professor of Medicine at VUMC. "That was something that had not been clearly shown before these studies."
[...] "It's a piece of themselves that they can then understand," she said, "instead of living a lifetime of experiencing this difference in their speech and never knowing why."
Journal Reference:
Douglas M. Shaw, Hannah P. Polikowsky, Dillon G. Pruett, et al. Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering. The American Journal of Human Genetics, 2021; 108 (12): 2271 DOI: 10.1016/j.ajhg.2021.11.004
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