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

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.

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

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.

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.

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.

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

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