This rare disease day (28 February 2019), we’re spotlighting rare diseases and bringing public awareness to their potential for future treatment, due to amazing developments in research happening right here in Western Australia.

What is a rare disease?

Interestingly enough when it comes to classifying a disease as ‘rare’ or not, the criteria differ region to region. In Europe, a disease can be classified as rare if it affects fewer than one in 2,000 people, whereas in US a disease can be classified as rare if it affects fewer than one in 20,000 people.

In Australia, the widely accepted definition is the European classification, which means approximately 0.05 per cent of the Australian population lives with a rare disease. Yet like any disease, it’s not only the patients who are affected – leading researchers estimate between 6-8 per cent of all Australians live a life affected by a rare disease.

 As well as being statistically uncommon, rare diseases are defined where the conditions are also:

• Life threatening or chronically debilitating,
• Highly complex, requiring combined efforts are needed to address them.

The majority of rare diseases are genetic, and as a result they are usually unpreventable. Commonly known rare diseases include cystic fibrosis, haemophilia, ALS (amyotrophic lateral sclerosis) and spina bifida.

What progress has been made so far?

Progress until now in the world of rare diseases has centred on the discovery and identification of these diseases. Unlike diseases affecting greater numbers of people, diagnosis of rare diseases is typically delayed, because of how uncommon and complex they are.

Once diseases are defined, exploration into their causes and potential treatments can begin. Again, this can be an extremely complicated process due to the small numbers affected who can trial new treatments and the need to use combined efforts to address the complexity of the conditions.

Encouragingly, over 600 new diseases have been identified since 2010, which is the reflection of an insurmountable amount of hard work carried out by medical researchers, doctors and scientists around the world.

What does the future hold?

With more rare diseases discovered, defined, and categorised, the next step is to further research the causes of rare diseases and develop treatments suitable to address their complexities. Murdoch University together with the Perron Institute, have recently launched the Centre for Molecular Medicine and Innovative Therapeutics, focused on sharing and combining their respective knowledge in various areas of health research to advance the progress of precision medicine and the treatment and management of diseases.

The Centre has already made significant progress in its research into the rare disease Duchenne muscular dystrophy (DMD). Therapies and medicine designed here in WA, by Perron Institute founders and Murdoch University researchers, have already become available in market and are positively impacting the lives and outlook for people diagnosed with DMD.

In the words of Kim Beazley, Governor of Western Australia,

The first of the drugs, Exondys 51TM, approved by the US Food and Drug Administration is fast emerging as one of the most successful drug launches ever for a rare disease.

And according to Mr Beazley, the opening of the Perron Centre is the sign of many good things to come.

“We should applaud the initiative taken by Murdoch, and the Perron Institute, in forming a joint venture and combining their considerable skills and expertise to address some of the big challenges that face healthcare today.

 “The theme of this new centre is precision medicine, its focus is on developing personalised therapies tailored to the individual needs of patients.

“For millions of people around the world suffering from life threatening and chronic illnesses, this medical research is the beginning of hope for cures and advances and improvement in quality of life.”

If you’d like to be on the frontier of fighting the world’s diseases, why not pursue a health degree at Murdoch?  Murdoch University is leading the way in precision medicine research with the goal to improve the lives of the thousands of people living with rare diseases.