Frequently Asked Questions
- What is Phenotype?
- What is Phenomics?
- How is Phenomics done?
- What is the advantage of Phenomics over traditional research strategies?
- What is the Australian Phenomics Network (APN)?
- Who is the Australian Phenomics Network (APN)?
- What does the APN do?
- Who can use this network?
- How much do APN Services cost?
- How do I get in contact with each node?
- How do I know whom to contact at each node?
1. What is a Phenotype?
The characteristics, traits and diseases that person develops as they go through life are part of a holistic picture of how we look to the world in all our strengths and weaknesses, is our phenotype.
2. What is Phenomics?
Phenomics is the study of how our phenotype comes about. It’s the study of how we become who we are. When two people look at each other, they don’t see the other person’s DNA code; they don’t see each other’s genes; they see an entire human being who is the result of the genes they carry and how those genes have interacted with the environment in which that person has grown up, lives and works.
3. How is Phenomics ‘done’?
With 25,000-30,000 genes, the task of understanding this incredibly complex process of building a whole person is mind-boggling and it can’t really be test tube research. Genes rarely act alone, but rather in concert with other genes and the environment, and these effects can only be seen in a living organism.
There are lots of ways scientists can do this in humans but in the end there are some techniques (ethically and/or technically) that can only be done in animals. These include switching genes on and off to see what happens, looking at stem cells to see what they do, crunching vast amounts of information on powerful computers and breeding animals which have the phenotypes – the holistic pictures – similar to humans (including obesity, diabetes, dementia and heart disease) and then doing experiments to see what can be learnt right down to how individual molecules behave inside their cells.
4. What is the advantage of Phenomics over traditional research strategies?
Often traditional strategies start by looking at a specific gene with an unknown function. With a phenomics approach, we look for changes in the whole person and then find the cause. Advantages of a phenomics approach include:
Understanding relationships between genes and phenotypes
Dissecting protein functions: ~60% of gene variants are mis-sense alleles with single amino acid substitutions in specific domains
Revealing completely unknown components and mechanisms
Revealing different mechanisms compared to knocking out entire gene (Protein Domain specific effects)
Allows the researcher to focus on his/her relevant disease or pathway
Develop pre-clinical animal models of human disease
5. What is the Australian Phenomics Network (APN)?
The study of phenomics – how we are and what we are as whole people – is a huge task requiring original research to make discoveries and repetition of that research by others to verify it. The raw material for that research is the thousands of mice strains and the new ones that are being produced every week.
The APN exists to share experience and resources so that the infrastructure needed for such large-scale work isn’t unnecessarily duplicated. The APN makes the research both more efficient and effective so that scientists are freer to focus on the big, outstanding questions.
The work of the APN includes:
Helping scientists find new mouse models from overseas
Holding a collection of new mouse models and phenotype information
Ways of exchanging and storing mouse models using frozen sperm and embryos
Capturing and sharing data between researchers
6. Who is the Australian Phenomics Network (APN)?
Nine Australian facilities and institutions constitute the APN:
The Australian National University
Monash University
The Walter and Eliza Hall Institute of Medical Research
The University of Melbourne
Queensland Institute of Medical Research
Institute of Medical and Veterinary Science
Centenary Institute
Menzies Research Institute
Animal Resource Centre
The APN partners contribute their expertise and infrastructure for the production of mouse models, as well as cryopreservation and pathology services. The APN is working with the Atlas of Living Australia to develop a framework for building e-science infrastructure to capture, annotate and disseminate research date.
Core expertise and funding are also extended by key national and international partnerships including the Garvan Institute, the Institute of Molecular Bioscience, the National Institutes of Health (USA), the Wellcome Trust (UK) and the University of Manitoba (Canada).
7. What does the APN do?
The APN provides Australian researchers access to 3 services:
- International sources of new mouse models and phenotype data derived from gene-trap Embryonic Stem (ES) cells or similar and phenotyping infrastructure (see ‘Mouse Models’ page, ES Cell to Mouse tab)
- Australian collections of new mouse models and phenotype data from ethyl nitrosourea (ENU) mutant mouse collections or similar and phenotyping infrastructure (see ‘Mouse Models’ page, ENU Dominant and ENU Recessive tabs)
- Infrastructure for archiving and exchange mouse models as frozen sperm or embryos and an integrated e-science infrastructure for capturing, annotating and disseminating data on mouse models and phenotypes (see ‘Mouse Models’ page, Pathology and Centralised Cryopreservation tabs)
8. Who can use this network?
The APN will be open to use by both publically funded and private sector researchers. The APN will deliver services at marginal rates for meritorious researchers on a first-come, first served basis.
9. How much do APN Services cost?
The cost is outlined under the Mouse Model tab for each service. If you require more details, let us know at contact@australianphenomics.org.au.
10. How do I get in contact with each node?
Contact details for each service are listed at the bottom of the Mouse Model page tabs. If the contact details you require are not listed, please contact APN Administration for more information: contact@australianphenomics.org.au
11. How do I know whom to contact at each node?
See question 10.