Progress in the area of Rare Diseases

 Whilst children and their families living with rare diseases undoubtedly face enormous challenges, it is a time of increasing opportunity and convergence, in Australia and internationally. The current consultation around the National Rare Diseases Strategic Framework is particularly notable not only because of its great importance to the rare diseases community, but also because that consultation is being led by the community through Rare Voices Australia.

This month some notable international events occurred on a background of globally increasing recognition of rare diseases as a public health priority. At United Nations headquarters in New York, was the second meeting of the NGO Committee for Rare Diseases , established under the umbrella of the Conference of NGOs in Consultative Relationship with the United Nations .

At Microsoft New York Headquarters was a meeting of the Global Commission  to End the Diagnostic Odyssey for Children with Rare Genetic Diseases. Both of these are a testament to the power of the united patient voice to drive partnerships for change.

The importance of addressing rare diseases initiatives in Indigenous populations has also been further emphasised recently, including with the endorsement of an Indigenous populations taskforce through the diagnostics scientific committee of the International Rare Diseases Research Consortium.

Also, there was the launch of Life Languages, in affiliation with the United Nations Year of Indigenous Languages. Life Languages is to retain and empower Indigenous languages and through this to help equitably transform (genomic) medicine and create connected communities. It has commenced through the first two Life Language Champions, Aboriginal medical students Yarlalu Thomas and Shamir Rind.

Professor Gareth Baynam
Clinical geneticist, Head Western Australian Register of Developmental Anomalies
ACAH Board member

26th February 2019

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