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eGenetics
eGenetics is a single access point for human genetics resources and information in Australia.on this page
Aim
eGenetics facilitates the sharing of knowledge on human genetics, improving access to high quality, current human genetic resources for health professionals, students and the Australian community.
How it works
Information on eGenetics has been provided by various national, state and territory agencies involved in human genetics. Organisations may submit their information with an application form to eGenetics via Submit information to eGenetics.
To ensure the information meets a minimum standard of quality, all information is assessed and approved by the NHMRC Resource Evaluation Team before being displayed on the website. It is the responsibility of the organisation that submitted the information to maintain the currency of that information. Information on eGenetics is not a substitute for independent professional advice.
For an opportunity to provide feedback on this site or service please email egenetics@nhmrc.gov.au
What is genetics?
Genetics is the discipline that is concerned with heredity and how particular qualities or traits are passed on from parents to offspring. It encompasses how simple traits such as height and hair colour as well as complex disease susceptibilities are inherited. Medical genetics is both a clinical specialty and a basic science, facilitating a greater understanding of the function of health and disease in the human body. Rapid advancements in genetics and genetic technology are creating abundant opportunities for the understanding, prevention, treatment and cure of human diseases.
Genes and health
Basic units of inheritance are known as genes. Every cell in the human body contains approximately 25 000 genes. Genes are passed down from parents to offspring and contain DNA sequences which carry coded information that instructs the growth, development and function of the human body. DNA is essentially the blueprint of health and disease. Mutations or errors in DNA can be passed down from parents to offspring and can sometimes cause disease or increase an individual’s susceptibility to disease.
Traditionally, the practice of genetics has been concerned with conditions or diseases such as cystic fibrosis or Huntington disease that are caused by mutations in single genes. However, as the focus on genetics and single genes is shifting towards multiple genes and gene-environment interactions (genomics and epigenetics), our understanding of the more complex multifactorial genetic disorders, such as cancer and diabetes, is increasing. This has resulted in a more mainstream approach to the application of genetics and genomics to a wide variety of clinical problems in the healthcare setting.