Genetics of Speech and Language Disorders

Project Details

We study the genetic causes of speech and language disorders to understand the underlying neurobiology (Figure 6). We have identified the only two genes definitively implicated in speech apraxia: FOXP2 and GRIN2A, based on detailed phenotypic analysis of large families with autosomal dominant speech disorders. We have shown that gene discovery coupled with imaging can elucidate neural pathways involved in speech disorders. Our cutting-edge magnetic resonance imaging (MRI) methods have revealed the underlying speech brain networks that are disturbed by FOXP2 mutation. Together, our genetic and MRI studies of FOXP2 have produced the most definitive, empirically-based, model of human speech production and have led to changes in treatment for individuals with this genetic disease.

Genes, brain, behaviour approach to understanding speech and language disorders

Researchers

  • Dr Michael Hildebrand BBiomed Sci, BSc (Hons), PhD - Laboratory Head
  • John Damiano BSc (Hons) - Senior Research Assistant
  • Amelia McGlade BSc (Hons) - Senior Research Assistant
  • Kristin Rigbye, BSc (Hons) 
  • Rebekah Stubbs, BSc, Grad Dip - Technical Assistant

Collaborators

  • A/Prof Angela Morgan, Murdoch Children's Research Institute
  • Prof Melanie Bahlo, Walter and Eliza Hall Institute
  • Prof Patrick Kwan, Royal Melbourne Hospital
  • A/Prof Heather Mefford, University of Washington

Funding

  1. National Health and Medical Research Council (NHMRC) Centre for Research Excellence in Speech and Language Neurobiology (CRE-SLANG) APP1116976 2017-2021, Murdoch Childrens Research Institute and University of Melbourne, Australia ($2,491, 340 AUD) CIA: A/Prof. Angela Morgan, CIB: Prof. Ingrid Scheffer, CIC: Michael S Hildebrand, CID: Prof. Melanie Bahlo, CIE: Prof. Alan Connelly, CIF: Prof. David Amor, CIG: Prof. Sheena Reilly, CIH: Prof. Simon Fisher, CII: Dr. Frederique Liegeois
  2. National Health and Medical Research Council (NHMRC), Project Grant APP1127144, Neurobiology of childhood speech disorders: improving diagnosis, prognosis & clinical care, Murdoch Childrens Research Institute and Epilepsy Research Centre, University of Melbourne, Australia ($994,575 AUD) CIA: A/Prof. Angela Morgan, CIB: Dr. Michael S Hildebrand, CIC: Prof. Simon Fisher, CID: Dr. Frederique Liegeois

Research Opportunities

This research project is available to PhD, Masters, Honours students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Outcomes

  1. LiƩgeois FJ, Hildebrand MS, Bonthrone A, Turner SJ, Scheffer IE, Bahlo M, Connelly A, Morgan AT. Early neuroimaging markers of FOXP2 intragenic deletion. Sci Rep. 2016 Oct 13;6:35192.
  2. Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45(9):1073-6.
  3. Turner SJ*, Hildebrand MS*, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Scheffer IE, Morgan AT. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. Am J Med Genet A. 2013 Sep;161A(9):2321-6. * Co-first authors

Research Group

Translational Neurogenetics Laboratory




Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Medicine and Radiology

Unit / Centre

Austin Hospital