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Development And Epilepsy - Strategies For Innovative Research To Improve Diagnosis, Prevention And Treatment In Children With Difficult To Treat Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$456,083.00
Summary
By deciphering pathophysiological mechanisms in epileptogenic developmental disorders and developing mechanism-related, and advanced therapeutic strategies, we expect to discover novel genes and related molecular pathways that are involved in epilepsy and similar disorders. DESIRE will also help preventing the development of the disease after potentially epileptogenic brain insults.
RARE-Bestpractices: Best Practices For Management Of Rare Diseases
Funder
National Health and Medical Research Council
Funding Amount
$640,231.00
Summary
Although by definition rare, over 8000 rare diseases affect approximately 1.2 million Australians. Patient care has suffered from fragmented approaches and lack of information available to health professionals. This project brings together major experts on rare diseases to improve the translation of scientific progress into tangible benefits for patients. The ultimate impact of this work will be the significant improvement of health outcomes and quality of life for rare disease patients and redu ....Although by definition rare, over 8000 rare diseases affect approximately 1.2 million Australians. Patient care has suffered from fragmented approaches and lack of information available to health professionals. This project brings together major experts on rare diseases to improve the translation of scientific progress into tangible benefits for patients. The ultimate impact of this work will be the significant improvement of health outcomes and quality of life for rare disease patients and reducing inequality in care.Read moreRead less
This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infecti ....This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infectious disease and cancer. The Australian component will perform a systematic characterisation of enhancer elements of potential disease genes. This characterisation will build on the concept of genomic regulatory blocks (GRBs) which contain highly conserved non-coding elements (HCNEs) acting as long-range enhancers of developmental genes (recently discovered by T. Becker in the ZF-MODELS project).Read moreRead less