Home
About Us
Contact Details
Staff
Epilepsy Info
Resources
Donations
 

Genetics of Epilepsy:

Molecular Genetics Laboratory

Home

 

 

  Quick links:   More information about the research groups and programs affiliated with the Epilepsy Research Centre:
 

What do we do?
Our Staff
PhD and Honours Projects
Contact Details
Publications
Back to Genetics of Epilepsy Page

 
Go to

Clinical Genetics Research Group
University of Melbourne

 

Go to

Paediatric Epilepsy, Autism & Mental Retardation Research
University of Melbourne

   
Go to

Molecular Genetics Research Group
University of Melbourne

 

Go to

Epilepsy Outcomes Research

 

Go to

Neurocognitive Research Group

 

Go to

Clinical Trials

   
Go to
Neuroimaging of Epilepsy at Brain Research Institute

 

What do we do?

The Epilepsy Genetics group comprises a large clinical epilepsy research team and the Epilepsy Molecular Genetics Laboratory.  Together with collaborators at the Women’s & Children’s Hospital and University of South Australia in Adelaide, and at the Walter and Eliza Hall Institute in Parkville, we are international leaders in the genetics of epilepsy.

The Molecular Genetics Laboratory focuses on gene discovery and analysis in both simple Mendelian epilepsies (where one gene is responsible) and complex epilepsies (where multiple genes may play a role). In order to identify and characterise genes involved in epilepsy, the Epilepsy Molecular Genetics Laboratory and its collaborators use current and emerging genetic and molecular techniques, including advanced gene mapping, bioinformatics, database mining and Next Generation sequencing (also known as Massive Parallel Sequencing), as well as PCR and conventional DNA sequencing. 

 

Our Staff

Dr Michael Hildebrand (Laboratory Head, Research Fellow)

Dr Henrik Dahl (Senior Scientist)

John Damiano (Senior Research Assistant)

Elena Aleksoska (Senior Technical Assistant)

 

PhD and Honours Projects

Project Title:  Finding and analysing novel genes for epilepsy

Supervisors:  Prof. Sam Berkovic, Dr. Michael Hildebrand and Dr. Henrik Dahl

Description:  The Human Genome Project, gene mapping techniques, bioinformatics and Next Generation sequencing are currently revolutionizing gene discovery, leading to the rapid discovery of genes associated with human disease.  The Epilepsy Research Centre has over many years studied families with inherited forms of epilepsy and identified several genes associated with this condition.  Despite our success, the genetic causes of epilepsy remain unknown in many families. We are currently generating Next Generation sequencing data from 8 families with different types of inherited epilepsy.  You will identify and analyse a novel “epilepsy” gene in one or more of these families.

Techniques:  This exciting and results-focussed project takes advantage of the large patient material and comprehensive clinical information that we have available.  The Epilepsy Molecular Genetics Laboratory and its collaborators use the latest techniques in molecular genetics, including advanced gene mapping, bioinformatics, Next Generation sequencing (also known as Massive Parallel Sequencing), as well as conventional DNA sequencing.  You will be involved in the analysis of data from gene mapping and Next Generation sequencing and you will investigate the role and importance of the novel “epilepsy” gene(s) in epilepsy.  This will involve database mining, bioinformatics and practical laboratory work (PCR, DNA sequencing etc.).

Back to top

 

Contact Details

Dr Michael Hildebrand
Epilepsy Research Centre
Level 1, Melbourne Brain Centre
245 Burgundy Street
Heidelberg VIC 3084

Tel: +613 9035 7059
Email: michael.hildebrand@unimelb.edu.au

Back to top

 

Publications

Some of Melbourne Molecular Genetics Laboratory's important publications are listed below. More publications from the ERC including other Molecular Genetics papers can be found on the Genetics of Epilepsy page. More publications and details can also be found using the search engine PubMed or on Prof Sam Berkovic, Dr Henrik Dahl, and Dr Michael Hildebrand's University of Melbourne profiles.

  • Mullen, S.A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., Berkovic, S.F., Scheffer, I.E., and Guerrini, R. (2011). Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy. Arch Neurol.
  • Dibbens, L.M., Kneen, R., Bayly, M.A., Heron, S.E., Arsov, T., Damiano, J.A., Desai, T., Gibbs, J., McKenzie, F., Mulley, J.C., Ronan, A., and Scheffer, I.E. (2011). Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology 76, 1514-1519.
  • Carranza Rojo, D., Hamiwka, L., McMahon, J.M., Dibbens, L.M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J.L., Yendle, S.C., Berkovic, S.F., Bienvenu, T., De Jonghe, P., Thorburn, D.R., Mulley, J.C., Mefford, H.C., and Scheffer, I.E. (2011). De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 77, 380-383.
  • Arsov, T., Smith, K.R., Damiano, J., Franceschetti, S., Canafoglia, L., Bromhead, C.J., Andermann, E., Vears, D.F., Cossette, P., Rajagopalan, S., McDougall, A., Sofia, V., Farrell, M., Aguglia, U., Zini, A., Meletti, S., Morbin, M., Mullen, S., Andermann, F., Mole, S.E., Bahlo, M., and Berkovic, S.F. (2011). Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet 8, 566-573.
  • Anand, G., Padeniya, A., Hanrahan, D., Scheffer, H., Zaiwalla, Z., Cox, D., Mann, N., Hewertson, J., Price, S., Nemeth, A., Arsov, T., Scheffer, I., Jayawant, S., Pike, M., and McShane, T. (2011). Milder phenotypes of glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol 53, 664-668.

Back to top

Back to Genetics of Epilepsy Page


Created: 15 Sept 2003
Last modified: 1 Feb 2012
Authorised by: Prof Sam Berkovic
Legal Notice  
Maintained by: Susannah Bellows
Email: epilepsy-austin@unimelb.edu.au
University of Melbourne
Austin Health
About Us
Brain Research Institute