Discovery And Characterisation Of Long Noncoding RNAs In Human Neurological Disorders
Funder
National Health and Medical Research Council
Funding Amount
$349,647.00
Summary
Numerous regions in our DNA influence how likely we are to develop various diseases, including brain disorders such as Autism and Schizophrenia. However, in many of these regions no genes have been found and they appear “empty”, making it difficult to uncover what’s triggering the disease. This project will use a powerful new technology to discover new genes hidden within these supposedly “empty” regions that are important in brain disorders and investigate how they contribute to disease.
RNA Interference And Retigabine Therapy Protect Against Hereditary Hearing Loss
Funder
National Health and Medical Research Council
Funding Amount
$370,522.00
Summary
The preservation of hearing function is central to the treatment of individuals who are genetically predisposed to hearing loss. At present only synthetic hearing aids and cochlear implants can provide functional improvement, albeit sub-optimal. The studies described here will seek to prevent hearing loss by reducing the damaging effects of defective genes. Gene therapies that reduce the effect of these defective genes and a drug that enhances the activity of functional genes will be developed.
Retrotransposon Regulation Of The Human Innate Immune Response
Funder
National Health and Medical Research Council
Funding Amount
$231,937.00
Summary
Complete sequencing of the human genome has revealed the positions of approximately 20,000 genes. In addition, nearly 50% of the human genome is comprised of repetitive sequences previously thought of as junk DNA. Numerous studies are now finding that this DNA actually has a variety of important functions, particularly in the control of gene activity. This project will examine the relationships between gene expression and nearby repetitive sequences during the innate immune response in humans.
Applying Gene Therapy Towards Limb Girdle Muscular Dystrophy 2I And Other Human Muscle Diseases.
Funder
National Health and Medical Research Council
Funding Amount
$347,264.00
Summary
Therapeutic replacement of small, normal sections of the dystrophin gene can prevent muscle wasting in young dystrophic mice with mutations in dystrophin. This project attempts to apply the same principle to treat another inherited muscle disorder, caused by mutations in the FKRP gene. This approach can also potentially be used to enhance muscle regeneration and treat age related muscle atrophy, or synergistically applied with other therapies that target specific genetic mutations.
Genomic Approaches To Understanding Tasmanian Devil Facial Tumor Disease
Funder
National Health and Medical Research Council
Funding Amount
$210,855.00
Summary
Devil facial tumor disease (DFTD) is an emerging infectious disease affecting Tasmanian devils. DFTD is a transmissible cancer, and results in the growth of large tumors usually on the face and mouth of affected animals. DFTD has led to the collapse of the Tasmanian devil population, and there is concern that the disease will drive devils to extinction in the wild within the next 20 years. I propose to use new genome sequencing technologies to discover genes responsible for DFTD.
Genome-wide Association Studies Of Biomedical Traits And Endophenotypes For Complex Disease
Funder
National Health and Medical Research Council
Funding Amount
$295,804.00
Summary
The burden of common complex diseases, such as cardiovascular disease is substantial to the health care system. These diseases are caused by genes and environments as well as their interactions. The proposed project will identify genes affecting the susceptibility of individuals to complex diseases. Discovery of such genes will be important for their diagnosis, prevention and treatment and may serve as an important resource for future personalized medicine.