Need to talk? Call 1800 882 436.
It's a free call with a maternal child health nurse. *call charges may apply from your mobile

Is it an emergency? Dial 000
If you need urgent medical help, call triple zero immediately.

beginning of content

Search results for: "Genetic Diseases"

Need more information?

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

Genomics resources for consumers | NHMRC

The Human Genome This resource provides information about the human genome and how diseases or conditions can be caused by genetic mutations. The human genome consists of the complete set of human genetic material that is contained in a human cell. In most human cells, the genetic material is made up of long DNA strands that are packaged into 23 pairs of chromosomes. A genetic disease or condition is caused by one or more genetic changes to the DNA code.

Read more on NHMRC – National Health and Medical Research Council website

Prenatal Screening for Chromosomal and Genetic Conditions

Read more on RANZCOG - Royal Australian and New Zealand College of Obstetricians and Gynaecologists 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

Genomics and genomic testing | Garvan Institute of Medical Research

Genomics is the study of the structure and function of the genome – a person’s complete set of genetic material, including all of their genes.

Read more on Garvan Institute of Medical Research website

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

Syndromes without a name: children & teens | Raising Children Network

SWAN means syndromes without a name. Doctors might use the term SWAN when children have symptoms of genetic disorder but the symptoms can’t be diagnosed.

Read more on website

Genetic conditions | Cerebral Palsy Alliance

Thousands of Australians have genetic conditions that cause physical or intellectual disabilities. Some of these conditions are inherited, while others are caused by random alteration in one or more genes in the person’s body.

Read more on Cerebral Palsy Alliance website

Mucopolysaccharide diseases in children | Raising Children Network

Mucopolysaccharide diseases, or MPS, are rare genetic disorders caused by enzyme problems. Read more about how mucopolysaccharidoses affect children.

Read more on website

Angelman syndrome in children | Raising Children Network

Angelman syndrome is a genetic disorder causing developmental delay and intellectual disability. Early intervention can help children with Angelman syndrome.

Read more on website

Call us and speak to a Maternal Child Health Nurse for personal advice and guidance.

Need further advice or guidance from our maternal child health nurses?

This information is for your general information and use only and is not intended to be used as medical advice and should not be used to diagnose, treat, cure or prevent any medical condition, nor should it be used for therapeutic purposes.

The information is not a substitute for independent professional advice and should not be used as an alternative to professional health care. If you have a particular medical problem, please consult a healthcare professional.

Except as permitted under the Copyright Act 1968, this publication or any part of it may not be reproduced, altered, adapted, stored and/or distributed in any form or by any means without the prior written permission of Healthdirect Australia.