Population-Level Study of Developmental Stuttering

Hannah Polikowsky is a PhD candidate at Vanderbilt University in the Human Genetics department. Her current research involves population and familial-based analyses of speech and language traits with ongoing investigations into the full genetic architecture of developmental stuttering. Prior to graduate school, Ms. Polikowsky launched a data analysis services division within a software-as-a-service company to provide scientists globally with tools and processes for drug discovery and clinical data analyses.  Today, Ms. Polikowsky continues to develop and implement analysis pipelines, which leverage high-parameter datasets and machine-learning tools, as a tactic to improve our understanding of human traits and ultimately, give rise to the equitable treatment of everyone. 

Dr. Jennifer "Piper" Below, PhD is an associate professor of medicine at Vanderbilt University Medical Center. Her lab works to understand the genetic basis of human disease, with a focus on bringing computation to unmet needs. One focus of the lab is understudied speech and language traits, with ongoing research projects investigating genetic susceptibility factors in developmental stuttering, developmental language disorder, and prosody. Her team has leveraged data within Vanderbilt University Medical Center’s electronic health records and the linked DNA databank, BioVU to characterize comorbidities of these traits phenome-wide and build machine learning-based models for imputing speech and language traits in the health record, where they are significantly underreported. She has partnered with institutions across the world to collect biospecimens from people with clinically characterized speech and language disorders for genetic analysis, as well as with the direct-to-consumer genomics company, 23andMe, who have provided results of genetic analyses on >100k self-reported stuttering cases and >1M controls including analyses in Hispanics and Latinos and Caucasian, African, and Asian ancestry groups. Collectively these data have allowed her to investigate the genetic architecture of speech and language traits across global populations and make discoveries about the genetic etiology of speech and language in Humans.

Douglas Shaw is a graduate student working with Dr. Below at the Vanderbilt Genetic Institute. Doug’s research primarily focuses on phenotypic and genotypic risk modeling to better understand the biological etiology of speech and language traits, specifically developmental stuttering. Doug utilizes statistical modeling to develop machine-learning phenotyping algorithms to drive genetic discovery in large electronic health records linked to genetic biobanks and better understand the constellation of comorbidities associated with various language traits. These genotype risk models have also served to identify and better understand the common genetic etiologies that exist between stuttering and other commonly observed co-occurring neuropsychiatric and behavioral clinical phenotypes.