research

neuroscience research

summary

Neurogenetics research aims to understand the genetic basis of disorders of the nervous system. Apart from epilepsy research, we are focusing on understanding the genetic and molecular basis of early brain development by studying children with congenital brain malformations. This will translate into improved diagnostic testing and counseling, as well as providing insights into normal developmental mechanisms.

Epilepsy, disorders of brain development and neuromuscular diseases can be extremely disabling conditions. These ailments are the main focus of our research, which currently involves:

  • studying brain development in term and premature newborns to prevent brain injury
  • investigating the genetic causes of epilepsy
  • undertaking epilepsy drug trials
  • examining the role of brain scanning and surgery in curing epilepsy
  • searching for a cure for muscular dystrophy

 

group leader(s)

A/Professor Andrew J Kornberg
Neuroscience Research
Murdoch Children's Research Institute
Royal Children's Hospital
Flemington Road
Parkville Victoria 3052

T   +61 3 9345 5641
F   +61 3 9345 5977
E    andrew.kornberg@rch.org.au

group leader biography


Dr Rick Leventer
Neuroscience Research
Murdoch Children's Research Institute
Royal Children's Hospital
Flemington Road
Parkville Victoria 3052

T   +61 3 9345 5661
E    richard.leventer@rch.org.au
     

current research projects

Project 1: Accelerated Gene Identification Project

Each year almost 8 million children, about 6 per cent of births worldwide, are born with a serious birth defect of genetic origin, for over half of these conditions, the genetic cause remains unknown.

This study aims to understand the cause of these genetic conditions using a new sophisticated genetic technology called 'SNP microarray'. Such technology compares the genetic material (DNA) between individuals in a family affected by the condition. Utilising this research allows us to expand our current clinical services to facilitate quicker diagnosis and more extensive genetic counselling for families with rare genetic conditions.

We are a multi-disciplinary team consisting of clinicians, researchers, biostatisticians and genetic counsellors, based at the Murdoch Childrens Research Institute and Genetic Health Services Victoria located at The Royal Children's Hospital, and the nearby Walter & Eliza Hall Institute of Medical Research.

team members

  • John Archer - RESEARCH ASSOCIATE
  • Fernando Calamante - HONORARY RESEARCH FELLOW
  • Lee Coleman - HONORARY RESEARCH FELLOW
  • Alan Connelly - HONORARY RESEARCH FELLOW
  • Jeremy Freeman - HONORARY FELLOW MANAGER
  • Simon Harvey - HONORARY FELLOW MANAGER
  • Mark Mackay - PhD Student (UoM Paeds)
  • Ian Mosley - RESEARCH ASSOCIATE
  • Monique Ryan - HONORARY FELLOW MANAGER
  • Ingrid Scheffer - HONORARY FELLOW
  • Monique Stagnitti - RESEARCH ASSOCIATE
  • Joseph Yang - PhD Student (UoM Paeds)

publications

  • Bray P., Bundy AC., Ryan MM., North KN., Burns J. Health status of boys with Duchenne muscular dystrophy: a parent's perspective. JOURNAL OF PAEDIATRICS AND CHILD HEALTH 47 (8) : 557 - 562(2011) PubMed
  • Burns J., Ouvrier RA., Yiu EM., Ryan MM. Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid. Journal of the Peripheral Nervous System 16 (3) : 272 - 274(2011) PubMed
  • Chan EK., Yan B., Ryan MM. Spontaneous intracranial hypotension in childhood: a case report and review of the literature. [Review]. JOURNAL OF CHILD NEUROLOGY (2011) PubMed
  • Galvin J., Hewish S., Rice J., Mackay MT. Functional outcome following paediatric stroke. DEVELOPMENTAL NEUROREHABILITATION 14 (2) : 67 - 71(2011) PubMed
  • Mackay MT., Wiznitzer M., Benedict SL., Lee KJ., deVeber GA., Ganesan V. Arterial Ischemic Stroke Risk Factors: The International Pediatric Stroke Study. ANNALS OF NEUROLOGY 69 (1) : 130 - 140(2011) PubMed
  • McMillan HJ., Srinivasan J., Darras BT., Ryan MM., Davis J., Lidov HG., Gill D., Jones HR. PEDIATRIC SCIATIC NEUROPATHY ASSOCIATED WITH NEOPLASMS. MUSCLE & NERVE 43 (2) : 183 - 188(2011) PubMed
  • Mohamed AR., Freeman JL., Maixner W., Bailey CA., Wrennall JA., Harvey AS. Temporoparietooccipital disconnection in children with intractable epilepsy Clinical article. JOURNAL OF NEUROSURGERY-PEDIATRICS 7 (6) : 660 - 670(2011) PubMed
  • Smith KR., Bromhead CJ., Hildebrand MS., Shearer AE., Lockhart PJ., Najmabadi H., Leventer RJ., McGillivray G., Amor DJ., Smith RJ., Bahlo M. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biology (2011) PubMed
  • Spencer-Smith M., Anderson P., Jacobs R., Coleman L., Long B., Anderson V. Does Timing of Brain Lesion Have an Impact on Children's Attention?. DEVELOPMENTAL NEUROPSYCHOLOGY 36 (3) : 353 - 366(2011) PubMed
  • Srinivasan J., Ryan MM., Escolar DM., Darras B., Jones HR. Pediatric sciatic neuropathies A 30-year prospective study. NEUROLOGY 76 (11) : 976 - 980(2011) PubMed
  • Tan A., Yang J., Tauschek M., Praszkier J., Robins-Browne RM. Autogenous Transcriptional Regulation of the regA Gene, Encoding an AraC-Like, Essential Virulence Regulator in Citrobacter rodentium. JOURNAL OF BACTERIOLOGY 193 (7) : 1777 - 1782(2011) PubMed
  • Tan TY., Collins A., James PA., McGillivray G., Stark Z., Gordon CT., Leventer RJ., Pope K., Forbes R., Crolla JA., Ganesamoorthy D., Burgess T., Bruno DL., Slater HR., Farlie PG., Amor DJ. Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (7) : 1623 - 1633(2011) PubMed
  • Thesen T., Quinn BT., Carlson C., Devinsky O., DuBois J., McDonald CR., French J., Leventer R., Felsovalyi O., Wang XY., Halgren E., Kuzniecky R. Detection of Epileptogenic Cortical Malformations with Surface-Based MRI Morphometry. PLOS ONE 6 (2) (2011) PubMed
  • Yang J., Tauschek M., Robins-Browne RM. Control of bacterial virulence by AraC-like regulators that respond to chemical signals. TRENDS IN MICROBIOLOGY 19 (3) : 128 - 135(2011) PubMed
  • Yiu EM., Geevasinga N., Nicholson GA., Fagan ER., Ryan MM., Ouvrier RA. A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. NEUROLOGY 76 (5) : 461 - 466(2011) PubMed
  • Yock-Corrales A., Babl FE., Mosley IT., Mackay MT. Can the FAST and ROSIER adult stroke recognition tools be applied to confirmed childhood arterial ischemic stroke?. BMC PEDIATRICS 11 (93) (2011) PubMed
  • Yock-Corrales A., Mackay MT., Mosley I., Maixner W., Babl FE. Acute childhood arterial ischemic and hemorrhagic stroke in the emergency department. Annals of Emergency Medicine 58 (2) : 156 - 163(2011) PubMed