Investigating the genetics of stuttering

The International Stuttering Project (ISP) represents a global collaboration. Formed in 2020, the ISP continues to collate global outbred populations of people who stutter, specifically to illuminate genetic etiology and broaden investigations of its diverse and variable phenotype. We are continually recruiting study participants. Please contact us if you would like to participate in our investigations either as a patient or research collaborator!

 

Our efforts in Australia have been featured on Today Tonight:

Meet Our Team

  • Shelly Jo Kraft, PhD

    Associate Professor
    Speech Language Pathology & Audiology
    Wayne State University

    Dr. Kraft is both a practicing speech pathologist and associate professor in Speech Language Pathology and Audiology at Wayne State University in Detroit, MI, USA. Shelly Jo’s research focuses on the biological and behavioral genetics of stuttering and other communication disorders, autism, and hearing loss. She’s a dedicated lecturer, winning several outstanding teaching awards for her efforts in the classroom. Her research on stuttering has also been showcased at international conferences.

  • Robin M. Jones, CCC-SLP, Ph.D

    Assistant Professor in the Department of Hearing and Speech Sciences
    Vanderbilt University

    Dr. Jones is an assistant professor in the Department of Hearing and Speech Sciences in the Vanderbilt University school of Medicine in Nashville, TN, USA. His primary research interests include investigating the emotional, cognitive, and linguistic contributions to childhood stuttering as well as stuttering treatments.

    https://medschool.vanderbilt.edu/hearing-speech/person/robin-jones/

  • Janet Beilby, M.Sc., Ph.D

    Associate Professor
    Curtin School of Allied Health

    Dr. Beilby is a renowned Senior Lecturer and Clinical Educator at Curtin University in Western Australia and has been a lecturer, researcher and clinician in the field of stuttering, dementia, and virtual reality for over 30 years. Dr. Beilby has treated thousands of clients, trained hundreds of students and been awarded over half a million dollars in research funds investigating varying aspects of stuttering disorders.

  • Jennifer (Piper) Below, PhD

    Associate Professor
    Genetic Medicine
    Vanderbilt University Medical Center

    Dr. Below is an associate professor in the Division of Genetic Medicine at Vanderbilt University Medical Center and a 2020 Chancellor Faculty Fellow. She has developed innovative approaches to phenotyping and genetic discovery using large-scale data from DNA biobanks. She leads several large multi-institutional projects, with a focus on historically underrepresented populations and phenotypes, including a first-of-its-kind analysis of developmental stuttering.

  • Jonathon Linklater, M.Sc., Ph.D

    Dr. Linklater is an independent speech and language therapist located in Dublin, Ireland. Jonathon works with both children and adults with a range of communication needs. He has been involved with the Irish Stammering Association since 2003 and established the Health Service Executive Dublin adult stuttering course in 2005. Jonathon, who stutters himself, frequently presents his therapy approach to stuttering at international conferences.

  • Hannah Grace Polikowsky

    Graduate student in the Human Genetics program

    Vanderbilt University

    Ms. Polikowsky's research involves population and familial based analyses of speech and language traits. Her recent genome-wide association study of developmental stuttering reported novel genome-wide significant findings for clinically-ascertained stuttering, demonstrating that common genetic variation contributes to this complex trait. Ongoing research seeks to elucidate the full genetic architecture of developmental stuttering and other complex traits. Outside the lab, Hannah enjoys traveling, especially to explore the beautiful outdoors, and baking mouth-watering whole-food treats (medjool date bars are a favorite creation)!

  • Douglas Shaw

    Graduate Student in the Human Genetics Program

    Vanderbilt University

    Doug's work primarily involves utilizing statistical modeling to develop phenotyping algorithms to drive genetic discovery in large health-record linked genetic biobanks.

  • Emily Graham LeRose

    Emily Graham LeRose is a doctoral student at Wayne State University and practicing speech-language pathologist at Henry Ford Health System in Detroit, MI. Her research interests include autism spectrum disorders, stuttering, and genetic traits of developmental speech and language disorders.

  • Emily Lowther, MSpeechPath, CCC-SLP

    Emily Lowther, MSpeechPath, CCC-SLP, is a doctoral student at Wayne State University investigating the speech traits of people with Down syndrome. Specifically, her work is aimed at quantifying stuttering, intelligibility, and speech fluency norms for people with Down syndrome with the aim of developing new therapeutic guidelines to improve communication and quality-of-life.

  • Kathy Viljoen

    Kathy Viljoen is a Speech Pathologist specializing in the management of stuttering. She is a Clinical Educator at Curtin University in Western Australia, supervising both undergraduate and Masters students in their stuttering placements. The Curtin Stuttering Treatment Clinic is the largest treatment facility for individuals who stutter in Western Australia. Kathy also works in private practice, working with children, their families and adults who stutter. She has received numerous awards for her work as a clinician and clinical educator.

Want to learn more or help? See currently open research opportunities below

Currently enrolling for a study into the genetics of stuttering:

We are currently recruiting participants for a study to help improve our understanding of the genetics of studying, click below to enroll!

Want to help, but can’t commit to a study?

RESEARCH OPPORTUNITY: Please help us understand more about the etiology of stuttering by taking an anonymous health history survey. We need adults, age 18 or over, with a history of stuttering to take an anonymous survey to gather information on the overall health and presence of unrelated conditions that can co-occur in individuals who stutter. Thank you!

Research opportunity for people with Down syndrome

RESEARCH OPPORTUNITY: We are collecting videos of people with Down syndrome speaking as they would in daily life. To conduct the analysis we need a minimum of 50 utterances (sentences of 2+ words), which can take 10-20 minutes to collect. We can use videos from English-speaking participants of any age, as long as they are able to speak in sentences and are happy to be recorded. 

You can choose how to provide your videos. They can be uploaded to our website, sent via WhatsApp to our dedicated research phone, or recorded by a researcher during a scheduled Zoom chat.

To learn more, please visit our website https://downsyndromespeech.wayne.edu or feel free to email Emily Lowther (emily.lowther@wayne.edu). 

If you would like to participate, please complete our consent and brief questionnaire by clicking the button below

Recent Publications

  • Identifying developmental stuttering and associated comorbidities in electronic health records and creating a phenome risk classifier.

    Pruett DG, Shaw DM, Chen HH, Petty LE, Polikowsky HG, Kraft SJ, Jones RM, Below JE. J Fluency Disord. 2021 Jun;68:105847. doi: 10.1016/j.jfludis.2021.105847. Epub 2021 Apr 15. PMID: 33894541

  • Automated Phenotyping Tool for Identifying Developmental Language Disorder Cases in Health Systems Data (APT-DLD): A New Research Algorithm for Deployment in Large-Scale Electronic Health Record Systems.

    Walters CE Jr, Nitin R, Margulis K, Boorom O, Gustavson DE, Bush CT, Davis LK, Below JE, Cox NJ, Camarata SM, Gordon RL. J Speech Lang Hear Res. 2020 Sep 15;63(9):3019-3035. doi: 10.1044/2020_JSLHR-19-00397. Epub 2020 Aug 11. PMID: 32791019

  • The Role of Effortful Control in Stuttering Severity in Children: Replication Study.

    Kraft SJ, Lowther E, Beilby J. Am J Speech Lang Pathol. 2019 Feb 21;28(1):14-28. doi: 10.1044/2018_AJSLP-17-0097. PMID: 30517950

  • Applying a Phenome Risk Classification Model to Identify Undiagnosed Developmental Stuttering Cases in a Biobank for Genome Wide Association Analysis. American Journal of Human Genetics. Under review.

    Shaw D.†, Polikowsky H.†, Pruett D.†, Chen H.H.†, Petty L.E.†, Jones R., Kraft S.J., Below J.E.

  • Multiethnic genome-wide association study of developmental stuttering. HGG Advances. Under review.

    Polikowsky H. †, Shaw D. M. †, Petty L.E. †, Linklater J., Highland H.M., Levitt B., Avery C., Mullis Harris K., Below J.E.*, Kraft S.J.*,

  • TOPsy: Psychometric validation of a novel test of speech prosody via syllable emphasis. Frontiers Neurology. In submission.

    Nayak S., Gustavson D.E., Wang Y., Jennifer E. Below J.E., Gordon R.L., Magne C.