Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.
SCRC: PhD 6.06 – Capturing And Maintaining Genetic Variation When Initiating Selective Breeding Programs For Aquaculture
Funder
Fisheries Research and Development Corporation
Summary
Industry need: The following projects have stated the need for establishing sustainable selective breeding programs; • Development of a genetic management and improvement strategy for temperate marine finfish (2008/723). • Scope and economic analysis of options for a nationally unified breeding program for abalone aquaculture (2008/722). • Development of a genetic management strategy for cultured Barramundi (2008/758).
Genomics For Combating Antimicrobial Resistant Bacterial Pathogens
Funder
National Health and Medical Research Council
Funding Amount
$2,027,364.00
Summary
Applying genomics to bacterial pathogens is revolutionising the way we understand infectious diseases and antimicrobial resistance (AMR). There is a major opportunity to now bring the technology into routine clinical and public health practice. This research program will investigate and deliver the technology of pathogen genomics directly into public health disease surveillance, outbreak detection and the diagnosis and response to infectious diseases and AMR in hospitalised patients.
An Indigenous Australian Reference Genome: Indigenous Inclusion In The Benefits Of Genomic Medicine
Funder
National Health and Medical Research Council
Funding Amount
$1,428,508.00
Summary
This project will establish an Indigenous Australian reference genome (the NCIGrg) within the National Centre for Indigenous Genomics (NCIG) using advanced genome sequencing technologies and data analytics and evaluate its research and clinical utility. The NCIGrg will be cornerstone of future genomic research and its clinical application in Indigenous communities. It will underpin NCIG’s commitment to ensuring that Indigenous Australians are included in the benefits of genomic medicine.
TRACEBACK - Identification Of Women Carrying Germline BRCA1/2 Mutations Through A Retrospective Analysis Of Patients Diagnosed With High Grade Serous Ovarian Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$83,284.00
Summary
Inheriting a mutated-BRCA is associated with significant risk of developing cancer. It is a crucial diagnosis to make with proven procedures that can reduce the risk of cancer developing. Ovarian cancer (HGSOC) is the tumour most strongly associated with BRCA (15-20%) and provides a diagnostic opportunity, but despite Australian guidelines <50% receive testing. Our aim is to provide BRCA1/2 screening opportunities to patients and families and improve the rate of BRCA testing Australia wide.
Seafood CRC: Promoting Marine Finfish Aquaculture In NSW
Funder
Fisheries Research and Development Corporation
Funding Amount
$99,990.13
Summary
NSW currently imports over 85% of its seafood and needs a substantial increase in investment and production, most notably, major new marine based aquaculture development.(Bond University, 2012). However, marine aquaculture development is fundamentally constrained by the lack of background biological and economic information. To promote marine finfish production, the NSW government has invested significantly in establishing, through the normal application pathway (EIS, REF, public consultation, D ....NSW currently imports over 85% of its seafood and needs a substantial increase in investment and production, most notably, major new marine based aquaculture development.(Bond University, 2012). However, marine aquaculture development is fundamentally constrained by the lack of background biological and economic information. To promote marine finfish production, the NSW government has invested significantly in establishing, through the normal application pathway (EIS, REF, public consultation, DA), a 20 ha Marine Aquaculture Research Lease (MARL) off Port Stephens with approval to produce up to 300 t fish/annum. The MARL is a vehicle to streamline approvals process, foster the social licence required for finfish production expansion in NSW, and to provide the fundamental information needed to encourage investment.
There are three key end users for MARL research: Industry, Public and Regulators. The research proposed on the lease will address short term needs central to the development of fish farming in subtropical waters of the Australian east coast and develop a platform for ongoing research. DPI has begun dialogue with potential commercial partners to operate the MARL. These discussions have established that yellowtail kingfish (YTK) is the primary species of interest (although tuna is a candidate and is specifically approved for the MARL). This interest in YTK is in part is driven by a shortfall of Kingfish and Barramundi from aquaculture in local markets – of the order of 460 t at the Sydney Fish Market alone last financial year.
Industry need: YTK production within Australia has not been without its challenges and further research is essential, particularly when entering new farming environments. Previous CRC research (SFCRC 2008/903) has developed models showing rapid growth for YTK in warmer waters (<18 months to 4.5 kg), but these models need validation. Further, there is a need to investigate health challenges and potential management options in a new offshore environment.
Public need: In gaining approval for the MARL, extensive public consultation was undertaken that identified key concerns with respect to the sustainable operation of the MARL. Traditional concerns over nutrient enrichment arose but were overshadowed by issues related to potential impacts on species of sharks and cetaceans. There is a need to investigate the MARL interaction with these species, and Port Stephens is uniquely well placed for this to occur. Port Stephens has the most intensive cetacean watch industry in the world and is the focus of a juvenile white shark and grey nurse shark monitoring program.
Regulatory need: DPI is funding development of a Marine Waters Sustainable Aquaculture Strategy for NSW (MWSAS), under State Environmental Planning Policy 62 – Sustainable Aquaculture (SEPP62) to streamline investment pathways and promoting sustainable seafood production. A MWSAS will describe the approvals process, best practice system design and operation, and identify areas suitable for future development. MARL research will inform a MWSAS in key areas of sustainability Objectives: 1. To obtain background environmental data for MARL operation 2. To have commenced development of a Marine Waters Sustainable Aquaculture Strategy for NSW 3. To have established the validity of existing growth/nutrition and economic performance models for Yellowtail Kingfish and Mulloway 4. To have determined any health challenges for finfish production and consequent management options in an offshore environment Read moreRead less
Assessment Of Restriction Enzyme Analysis Mitochondrial DNA For The Identification Of Stocks Of Commercially Important Marine Species And For The Detection Of Genetic Markers For The Use In Salmonid Husbandry
Funder
Fisheries Research and Development Corporation
Funding Amount
$54,045.00
Summary
Objectives: 1. Collect tissue, extract DNA. Restriction enzyme analysis to mt DNA samples to (1) calculate genome similarity, apply to known population biology to describe genome dynamics in marine spp 2. (2) survey diversity rainbow trout & Atlantic salmon. 3. Can mtDNA genome be genetic marker?
Association Between Sirtuin Single Nucleotide Polymorphisms And Functional Markers Of Brain Health In Ageing
Funder
National Health and Medical Research Council
Funding Amount
$311,860.00
Summary
Sirtuins are histone deacetylases that have been reported to play a pivotal role in energy expenditure, mitochondrial function and pathogenesis of metabolic diseases, including neurodegenerative disorders and Alzheimer’s disease in particular. In this study, we will focus on the genes encoding sirtuin families, and examined the association between single nucleotide polymorphisms within genes encoding sirtuin families and functional markers for brain health.
Stock Delineation Of The Pink Ling (Genypterus Blacodes) In Australian Waters Using Genetic And Morphometric Techniques
Funder
Fisheries Research and Development Corporation
Funding Amount
$219,149.62
Summary
There are two basic needs for the ling fishery that are addressed by this proposal:
1) It is important to determine whether pink ling from WA, the GAB, the SEF Eastern sector, and the SEF Western sector represent separate stocks, with the implied need for a separate management plan for each, or are simply components of a single large stock best managed as a single entity. Industry has noted the potential for development of the fishery in the west. It is particularly important to establi ....There are two basic needs for the ling fishery that are addressed by this proposal:
1) It is important to determine whether pink ling from WA, the GAB, the SEF Eastern sector, and the SEF Western sector represent separate stocks, with the implied need for a separate management plan for each, or are simply components of a single large stock best managed as a single entity. Industry has noted the potential for development of the fishery in the west. It is particularly important to establish whether or not the developing western fishery is distinct from the more fully exploited eastern fishery. Stock delineation work needs to be carried out before reliable biomass and yield estimates of stocks can be derived, and before new management plans are put into operation.
2) It is necessary to know for certain whether the orange form is the juvenile pink ling or whether it is a distinct species. This is necessary to integrate non-trawl components of the fishery with the trawl component. If the orange form is the juvenile of the pink form, then it will be important to manage gear types, such as set-netting, that most affect the smaller orange ling. The lack of such protection may otherwise impact on recruitment to the deepwater part of the fishery, which represents almost all of the economic value of ling. Whilst preliminary allozyme analysis indicates that the two colour forms of ling are the same species, there is a need to confirm this using more powerful genetic techniques. Objectives: 1. Delineate stock structure of pink ling in Australian waters so that separate management plans for each stock can be developed if required. 2. Examine the nature and relationship of orange and pink forms of ling so that management plans for the deepwater and inshore components of the fishery can be properly integrated. 3. To collect biological information, particularly in regards to life history and reproduction, that can be used together with stock delineation results and other information to develop yield estimates so that TACs can be reviewed. Read moreRead less