Key role for PCH in international rare disease initiative

The Child and Adolescent Health Service’s Rare Care Centre (RCC) is leading Australia’s role in the world’s largest initiative to improve the health and wellbeing of more than 300 million people worldwide who live with a rare disease, approximately half of whom are children.

The Perth Children’s Hospital-based RCC is heading the nation’s involvement in a European Union-based alliance which has been launched to accelerate research on rare diseases.

RCC Director, Professor Gareth Baynam, reveals that Australia is 1 of 3 non-EU nations partnering with this alliance on the initiative – Japan and Canada being the other 2.

Gareth says the RCC’s role will be to create a network of rare disease researchers throughout Australia to collaborate with members of the alliance and its international partners.

‘Partnering with the alliance gives us the opportunity to draw on the cutting-edge insights and expertise of its more than 170 member organisations and to share our own knowledge and expertise with the alliance,’ Gareth says.

‘It will also create greater opportunities for our patients to participate in clinical trials.’

Rare diseases are chronically debilitating conditions – often multisystemic – that affect fewer than 1 in 2,000 people.

These approximately 10,000 diseases are collectively common, however, affecting 2 million Australians.

‘Some rare diseases are so uncommon there could be a single case in all of Australia,’ Gareth says.

‘That is why international collaboration is so vital in the rare and undiagnosed diseases space – and it is what makes this initiative a gamechanger.

‘The collective knowledge and resources that we will be able to harness due to the scale of the alliance will enable us to expedite improved diagnoses, treatments and care for people living with a rare disease.

The alliance, known as the European Rare Diseases Research Alliance, is made up of organisations such as research institutes, hospitals, universities, pharmaceutical companies, and patient organisations from 37 countries. It currently has funding of more than $630 million.

In Western Australia approximately 63,000 children live with a rare disease.

The RCC co-ordinates care and support for Western Australian children and families living with rare or undiagnosed conditions across their health, education, disability, and social journeys.