The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
Haplotype Variation At The Dopamine Transporter Gene (SLC6A3): Effects On Function, Endo-phenotypes, Cognition And ADHD
Funder
National Health and Medical Research Council
Funding Amount
$585,894.00
Summary
We will investigate variation in the dopamine transporter gene. Variation in this gene will be characterised to a deeper level than has been previously possible using the latest sequencing technology, its biological function will be investigated using biochemical and neuroimaging methods directly in human subjects, and its effects on a clinically important cognitive measure and a common psychiatric condition (attention deficit/hyperactive disorder) will we determined.
I aim to decipher the role of heritable, genetic DNA variation in human neurological disease. I will use next generation genomics technologies together with sophisticated cellular models to address the important questions of the biology of epilepsy and intellectual disability in particular. I aim to develop a treatment for a specific type of epilepsy, which affects only girls from the age of 6 months. My ultimate goal is to improve the life of the patients and their relatives.
Uncovering The Function Of Susceptibility Variants In Alzheimer's Disease: From GWAS To Cell-Type Specific EQTLs And MQTLs
Funder
National Health and Medical Research Council
Funding Amount
$647,804.00
Summary
This project will investigate some of the genetic and epigenetic changes that occur inside certain brain cells that make them selectively vulnerable to Alzheimer's disease, in order to better understand the mechsnisms that give origin to the disease and identify possible targets for precision therapies.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Investigation Of The Functional Role Of Parkin And PArkin Co-Regulated Gene (PACRG) In Neurodegenerative Disease.
Funder
National Health and Medical Research Council
Funding Amount
$82,421.00
Summary
Parkinson’s disease (PD) is a chronic neurodegenerative disorder affecting greater than 1% of the population at 65 years of age. Current treatment regimes treat the motor-associated symptoms of disease - tremor and muscle rigidity. There is no cure, or effective treatment to reverse or halt disease progression. Understanding the role of dysregulated proteins in the progression of PD will identify new targets for treatment of the motor and cognitive deficits observed in PD-affected individuals.
Gene Discovery And Characterisation In The Familial Focal Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
Around 2% of people have epilepsy at some time in their lives. A large proportion of cases are thought to have a genetic cause, but genes have not yet been identified for most patients. The aim of this project is to use state-of-the-art genetic methods to identify genetic mutations causing epilepsy and to then study the effects of these mutations to better understand the biological causes of epilepsy. This in turn will lead to better diagnosis of epilepsy and improved treatment for patients.