WA Health helps champion rare disease research success

WA Health has helped champion the success of International Rare Disease Research Consortium (IRDiRC) (external site) whose achievements have been so remarkable that they have had to review their original visions and goals three years ahead of schedule.

Dr Gareth Baynam, a clinical geneticist based at King Edward Memorial Hospital
Co-author A/Professor Gareth Baynam

Through the Public Health Division, WA Health is a founding member of IRDiRC and represents Australia in the consortium.

The achievements of the consortium are highlighted in three academic papers all of which have been led by WA Health staff.

Professor Hugh Dawkins Director Office of Population Health Genomics was senior author of all three papers. For two of the papers A/Professor Gareth Baynam, WA Register of Developmental Anomalies head and Program Director for the Undiagnosed Diseases Program of WA, was a co-author.

The first of the papers (external site) appears today as a commentary in the journal Nature. The two companion papers will appear in the journal Clinical Translational Science.

The IRDiRC was established in 2011 to foster international collaboration in the rare disease research community and accelerate research through collaborations.

Professor Dawkins said IRDiRC’s original aims and objectives were considered highly aspirational at the time.

“So it is a really significant achievement that one of its key goals – to deliver 200 new therapies by 2020 – was achieved earlier this year and another – to diagnose most rare diseases by the end of the decade – is also within reach,” he said.

In 2013, the consortium received €48 million from the European Union to research new treatments for rare diseases and develop a central global research hub.

Professor Dawkins said WA Health played a leading role in ensuring Australia’s ongoing participation in the IRDiRC initiative, including securing $2.5 million in National Health and Medical Research Council grants to fund research projects that contributed to IRDiRC areas of focus.

He said IRDiRC’s new vision was that all people living with a rare disease receive an accurate diagnosis, care and available therapy within one year of coming to medical attention. Its 10-year goals were that:

  • all patients coming to medical attention with a suspected rare disease be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline
  • 1000 new therapies for rare diseases be approved, the majority of which will focus on diseases without approved options.
  • methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients.