There are more than 7,000 rare genetic diseases, of which about three-quarters affect children.

Genetic disease conditions are caused by changes in genes. Some conditions are inherited and occur in more than one person in a family. Others can occur for the first time in the person with the condition.

Rare genetic diseases are often serious and complex. They can be progressive, which means they might get worse as children grow older.

Finding a diagnosis for a rare genetic condition can take a long time and this can have major effects. It can delay early interventions that could help manage symptoms; reduce the opportunity for personalised care; delay access to services and supports; and influence planning for more children.

Diagnosis doesn’t always mean that there’s a treatment or therapy that can help.

 

 

Who does it affect?

Who does it affect?

  • In Australia, a disease is considered rare if it affects fewer than one in 2,000 people.
  • At least one in 20 babies is born with a rare disease.
  • If you have a child with a genetic condition, genetic counselling can help you and your family understand the diagnosis and adjust to it.

Our rare genetic disease research

Our rare genetic disease research

Our research is improving how we diagnose children with rare genetic conditions. Together with Victorian Clinical Genetics Services (VCGS), we have the expertise and facilities to identify new disease-causing genes.

By understanding causes and developing treatments, we aim to improve quality of life and evidence for policy change so Australians can access rapid, accurate gene testing.

Our vision

Our vision

Our vision is to enable all people living with a rare disease to receive a precise diagnosis, optimal care, and access to innovative research and therapy.

Where to next?

Where to next?

We are working closely with the Melbourne Children’s Trial Centre at MCRI to improve access to clinical trials for children with a rare disease. We continue to use our cutting-edge technologies to find answers for children who remain undiagnosed. We lead natural history studies for diagnosed children to better understand their rare disease.