An estimated two million Australians live with a rare disease, many of these conditions are genetic disorders.

International collaboration is key in rare disease. Approximately 80% of rare diseases are genetic disorders.

Sharing your personal story of living with a rare disease/genetic disorders can have a number of benefits.

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.

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

NHMRC has developed the following resources to provide information and advice to consumers on genetics or genomics and human health.

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

Rett syndrome is a genetic disorder that causes intellectual and physical disability. Early intervention can improve outcomes for children with Rett syndrome.

Prader-Willi syndrome is a rare genetic disorder that affects development and growth. Early intervention can improve outcomes for children with Prader-Willi.

CHARGE is a rare genetic disorder that causes many physical and health problems. Early intervention can improve outcomes for children with CHARGE syndrome.