Funding coup for rare diseases researchers

Announcing the $989,884 grant, WA Health’s Director of Population Health Genomics, Dr Hugh Dawkins said the money would be used to link information on rare diseases from around the world.
 
Also an Adjunct with Murdoch University’s Centre for Comparative Genomics (CCG), Dr Dawkins said around one in 12 Australians had a rare disease such as Muscular Dystrophy, Cystic Fibrosis, Huntington’s, Motor Neurone or early-onset Alzheimer’s.
 
"More than 6000 conditions – most known to be inherited genetically – are classified as rare diseases because they affect fewer than one in 2000 people," he said.
 
"While rare diseases are quite prevalent in the community, some of them only affect as few as one family – or one person – in Australia, and many do not even have their own medical code for classification.
 
"This research grant will help build a database of these rare diseases.
 
"By systematically pooling together information, including clinical and genetic information and research and trial datasets from across Australia and around the world, it is hoped that researchers will have more to work with."
 
Dr Dawkins said rare diseases were often referred to as orphan diseases because they provided little financial incentive for pharmaceutical companies to invest in or ‘adopt’ them.
 
"With so few cases to study, researchers also have less data with which to work," he said.
 
"This not only limits our knowledge of these diseases but clinicians’ ability to manage individuals living with a rare disease."
 
Dr Dawkins said the National Health and Medical Research Council – European Union (NHMRC-EU) Collaborative Research Grant would be coordinated by WA Health and administered by Murdoch University over a five year period.
 
"The project that has received the funding – RD Connect – is a collaborative project," he said.
 
"Research partners include the Centre for Comparative Genomics and the Institute for Immunology and Infectious Diseases at Murdoch University and Genetic Services at King Edward Memorial Hospital.
 
"Other collaborating partners include Royal Perth Hospital, the University of Western Australia, Edith Cowan University, the University of Melbourne and the University of Queensland.
 
"RD-Connect will become an important resource for rare disease researchers worldwide and help further knowledge and treatment of rare diseases.
 
"Ultimately it will lead to better outcomes for people with rare diseases."