Epilepsy and Speech Disorder Patient Repository

Project Details

Over the last 20 years the Epilepsy Research Centre has collected > 20,000 samples from Australian and international epilepsy patients. Through our Centre for Research Excellence in Speech and Language Neurobiology we have collected > 500 samples from Australian and international children and adults with speech and language disorders over the last 5 years. DNA has been extracted from blood, brain, saliva, buccal, skin and hair tissues and cells. The DNA is checked for quality and quantity, and databased together with clinical data using Filemaker Pro software. DNA samples are subjected to genetic analysis in our laboratory (Figure 1) or sent out to collaborators including the Epi4K and Epi25K international consortiums for large-scale exome sequencing.

Translational Neurogenetics Laboratory workflow from sample collection to genetic analysis by PCR, gel electrophoresis and sequencing.

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) Project Grant APP1129054 2017-2020, Detection of Somatic Mutations in Sporadic Epilepsies, Epilepsy Research Centre, University of Melbourne, Australia     ($1,256,165 AUD) CIA: Prof. Samuel F Berkovic, CIB: Dr. Michael S Hildebrand, CIC: Dr. Slave Petrovski, CID: Dr. Snezana Maljevic
  2. 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.

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. Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. Am J Hum Genet. 2016 Aug 4;99(2):423-9.
  2. 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.

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