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Researcher set to identify stuttering genes

Every week, clients ranging in age from 18 months to 70 years walk through the doors of the Curtin Stuttering Treatment Clinic (CSTC) for assistance with stuttering issues. The CSTC, which is the largest stuttering treatment clinic in Australia, has been developed over 35 years by clinician, educator and researcher, Dr Janet Beilby, and has a distinguished national and international reputation for therapeutic and research excellence.

Stuttering is a developmental speech and language disorder that is common in children and adults. It typically runs in families, and has a high estimated heritability of 5 in every 100 people. Stuttering is often co-morbid with debilitating mental health conditions, such as anxiety disorders and depression, and the impact it can have on a person’s self-esteem, education, employment prospects and social development can be devastating.

To date, the genetic architecture of stuttering has remained elusive, however that seems destined to change with the innovative work of Dr Beilby, Senior Lecturer School of Psychology and Speech Pathology. Dr Beilby is a co-investigator on a world-first longitudinal research project ‘Genetic Study of Developmental Stuttering’, which aims to identify the genetic markers associated with stuttering.

One of the families who attends the CSTC for treatment.
One of the families who attends the CSTC for treatment.

Dr Beilby is working with investigators Professor Shelly Jo Kraft, Wayne State University, and Professor Piper Below, University of Texas and Baylor Medical Centre, along with collaborators Dr Scott Yaruss, University of Pittsburg, Elaine Kelman, Michael Palin Centre, London, and Jonathon Linklator, Trinity College, Dublin and the University of Limerick. This is a leading consortium of elite stuttering centres and fluency specialists, across four continents, and is funded by a 2016 American National Institute of Health (NIH) research grant worth US$300,000 from the National Institute on Deafness and other Communication Disorders (NIDCD).

Dr Beilby said the project was a coup for both Curtin and Western Australia.

“This outstanding new research across five prestigious centres will showcase Western Australia on the international genetic clinical research arena,” she said.

The ‘Genetic Study of Developmental Stuttering’ project  is based on a 2014 CSTC research project ‘Genes for Persistent Developmental Stuttering: Australian Cohort’, which netted 1000 samples of data in two days. The samples were drawn from the CSTC’s significant numbers of multi-generational family participants, who have agreed to participate in ongoing stuttering research. The samples, already analysed, have generated considerable international interest with scientists from Wayne State University and the Baylor Human Genome Science Centres slated to visit the CSTC later in 2016 and 2017.

The ‘Genetic Study of Developmental Stuttering’ project will collect an additional 4000 clinical samples from Australian children and adults in the multi-generational families attending the CSTC. The genes associated with stuttering in these Australian families are, according to probability estimates, likely to be discovered.

Dr Beilby said the results of the research will be particularly important for young children genetically predisposed to stuttering.

“With such groundbreaking research, in the future we should be able to identify very early a child who might stutter, and in doing so encourage the parents to seek early intervention to prevent this becoming a chronic, lifelong, debilitating disorder,” Dr Beilby said.

Dr Beilby’s research has attracted considerable media interest, in particular from the ABC’s flagship weekly science program, Catalyst, which showcases high-impact Australian and global science discoveries. Catalyst has been planning a program on the Australian genetic research into stuttering with Dr Beilby and the staff at CSTC.