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Search results for: "Genetic Diseases"

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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

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

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 raisingchildren.net.au 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 raisingchildren.net.au website

Supporting Josie living with Rett | Cerebral Palsy Alliance

Rett syndrome is a neurological and genetic disorder. It is caused by a mutation of the MECP2 gene, found on the X chromosome.

Read more on Cerebral Palsy Alliance 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 raisingchildren.net.au website

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

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