Investigating Genetic Determinants Of Absence Epilepsy In A Polygenic Rat Model
Funder
National Health and Medical Research Council
Funding Amount
$458,481.00
Summary
The underlying genetic causes of idiopathic generalised epilepsies (IGE) are still largely unknown. In an animal model of IGE we have discovered novel genetic abnormalities an ion channel. This proposal will build upon these novel findings to examine the role these abnormalities have in determining the absence epilepsy phenotype and this work has the potential to provide vital information regarding the mechanisms by which this gene contributes to an IGE seizure phenotype.
A Genomic Basis For Cerebral Palsy - Studies On A Large Australian Cohort
Funder
National Health and Medical Research Council
Funding Amount
$518,305.00
Summary
Cerebral Palsy (CP) is the commonest neurological disability in children, affecting 1 in every 500 children. This research will investigate genetic causes of CP by testing families with and without CP for a range of genetic alterations that change fetal protection to inflammation with resultant brain damage and CP. Research in to the causes of CP will allow prevention strategies to be developed, to ultimately reduce social and financial costs of CP for the patient, their family and the community ....Cerebral Palsy (CP) is the commonest neurological disability in children, affecting 1 in every 500 children. This research will investigate genetic causes of CP by testing families with and without CP for a range of genetic alterations that change fetal protection to inflammation with resultant brain damage and CP. Research in to the causes of CP will allow prevention strategies to be developed, to ultimately reduce social and financial costs of CP for the patient, their family and the community.Read moreRead less
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.