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Genetics and genomics | Australian Government Department of Health and Aged Care
Genetics and genomics have the potential to reshape how we prevent, diagnose, treat and monitor illness. Find out what we’re doing to develop strategies and policies to both safeguard public health and improve the health of all Australians through gene technologies.
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Lived experience of rare disease including genetic disorders
Sharing your personal story of living with a rare disease/genetic disorders can have a number of benefits.
Read more on Rare Voices Australia website
Helpful information for rare diseases including genetic disorders
International collaboration is key in rare disease. Approximately 80% of rare diseases are genetic disorders.
Read more on Rare Voices Australia website
Learn more about rare diseases including genetic disorders
An estimated two million Australians live with a rare disease, many of these conditions are genetic disorders.
Read more on Rare Voices Australia website
Genetic counsellor: family guide | Raising Children Network
If there’s a genetic condition in your family, a genetic counsellor can help you understand the condition and make informed decisions about managing it.
Read more on raisingchildren.net.au website
Cri du Chat syndrome in children: a guide | Raising Children Network
Cri du Chat syndrome is a genetic disorder that causes health problems and intellectual disability. Early intervention can help children with Cri du Chat.
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CHARGE syndrome: signs, diagnosis, support | Raising Children Network
CHARGE is a rare genetic disorder that causes many physical and health problems. Early intervention can improve outcomes for children with CHARGE syndrome.
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Muscular dystrophy: children & teens | Raising Children Network
Muscular dystrophy (MD) is the name for a group of over 30 inherited muscle disorders. Children and teens with MD have muscles that get weaker over time.
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Rett syndrome: signs, diagnosis, support | Raising Children Network
Rett syndrome is a genetic disorder that causes intellectual and physical disability. Early intervention can improve outcomes for children with Rett syndrome.
Read more on raisingchildren.net.au website
Smith-Magenis syndrome in children
Smith-Magenis syndrome is a genetic developmental disorder that affects many parts of the body. Early intervention can help children with Smith-Magenis.
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Autism Spectrum Disorder and young people - Orygen, Revolution in Mind
Orygen is the world’s leading research and knowledge translation organisation focusing on mental ill-health in young people.
Read more on Orygen website
Guidance for the management of early breast cancer
This website contains a set of recommendations and practice points for the management and care of early breast cancer, developed through a meta-guideline process Context & development of the guidance Download the guidance Browse the guidance online View all guidance Key principles of management and care Guidance for Treatment planning, information and support Guidance for Treatment Guidance for Follow-up and survivorship Guidance curated by topic Genetic considerations Lymphoedema Reproductive and sexual health Wellbeing & psychosocial care Older patients Younger or premenopausal women Pregnancy Cardiac care
Read more on Cancer Australia website
Degenerative Diseases: Huntington’s | Ausmed
Huntington’s disease is a degenerative neurological condition affecting the nerve cells in the brain. It is a rare, genetic disease that impairs physical, cognitive and psychological functioning. The onset of the disease is usually in adulthood, with a life expectancy of about 10 to 30 years.
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Thiopurine methyltransferase (TPMT) | Pathology Tests Explained
Thiopurine methyltransferase (TPMT) is an enzyme that breaks down (metabolises) a class of drugs called thiopurines. These drugs are used to suppress the imm
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Whole Genome or Whole Exome Testing for Childhood Syndromes | Pathology Tests Explained
Whole genome testing looks at DNA, reading the entire genetic code of a patient to try and determine if there are variants in genes which could be responsibl
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Human immunodeficiency virus (HIV) genotypic resistance | Pathology Tests Explained
he genetic material of the Human immunodeficiency virus (HIV) is isolated from the blood sample. The genetic material is then sequenced – a form of decoding.
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Chromosome studies | Pathology Tests Explained
Chromosome studies or karyotyping is a test that evaluates the number and structure of a person's chromosomes in order to detect abnormalities. Chromosomes a
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Cystatin C | Pathology Tests Explained
Cystatin C is a small protein that is produced by nucleated cells (those with chromosomes and genetic material at their centre, which is most of the body's c
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BCR-ABL 1 | Pathology Tests Explained
BCR-ABL1 refers to a fusion gene sequence found in an abnormal chromosome 22 of some people with certain forms of leukaemia.Humans have 23 pair
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Presenilin 1 genetic analysis (PSEN1) | Pathology Tests Explained
This test looks for genetic faults (pathogenetic variants) in the PSEN1 gene, which have been associated with early onset familial Alzheimer's disease
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