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.
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
A Zebrafish Model Of Facioscapulohumeral Dystrophy For Therapy Development And Functional Studies
Funder
National Health and Medical Research Council
Funding Amount
$390,601.00
Summary
This project seeks to develop a zebrafish model for a genetic muscle-wasting disease called facioscapulohumeral dystrophy (FSHD). Our zebrafish model will enable us to better understand the biological mechanisms underlying the disease, as well as provide a platform for therapeutic testing and discovery.
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.
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.