23 March 2018

WA Health leads bid to boost rare disease breakthroughs

WA Health is behind a bold new bid to accelerate discoveries on the rare diseases front.

Genetic Services WA clinical geneticist, Gareth Baynam, who heads Western Australia’s Undiagnosed Diseases Program, has assembled a group of the world’s foremost experts in areas considered key to finding the causes of the most confounding rare diseases.

The Solving the Unsolved Taskforce will hold its first meeting at Cambridge University in the United Kingdom on Sunday, ahead of an international genomics conference taking place there next week. The Taskforce will become part of the International Rare Diseases Research Consortium of which the Health Department is a member.

Dr Baynam said that although there had been remarkable progress made over the past several years in identifying the genetic origins of many rare diseases, for about a third of rare conditions the causal mechanism remained elusive.

“This is despite multiple groups’ efforts using whole exome sequencing – and in some cases even whole genome sequencing – to find the cause,” he said.

“While there are many reasons why we may be hitting a brick wall with these conditions, such as complex biology and the limitations of existing technology, there are a limited number of approaches we can take to overcoming these.

“We’ll be drawing on the combined expertise of taskforce members to help advance our current approaches to tackling these medical mysteries.”

The taskforce includes world-leading experts in genomics, epigenetics, gene-environment interactions and a representative from Microsoft Research.

Dr Baynam said the mandate of the 12-member taskforce included to:

  • develop a state-of-play document on current and emerging approaches to these medical mysteries
  • develop a set of recommendations to advance what research needs to be done on these approaches
  • support the best use of these technologies in the clinic by developing a guide for doctors about what technologies to employ, in what situations, and in what sequence.


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