Artificial Intelligence and its potential in fighting rare diseases


AI is no longer the stuff of science fiction and could help unravel the complex issue of rare diseases and costly treatments.

‘Rare’ diseases are more common than you think, with more than 7,000 unique conditions affecting around eight percent of Australians. These often life-threatening or chronically debilitating conditions can have a vast and devastating impact -- but now hope might come from the latest advances in artificial intelligence (AI) technology.  

Most are genetic conditions with no cure. The treatments for such conditions are limited and often only mitigate the impact on a patient’s life. 

That’s the view of health systems researcher, Dr. Andreas Amrein, who is Vice President (Rare and Specialty Care) at Takeda Europe based in Switzerland. 

“Not all rare diseases affect life expectancy, but they lead to physical, emotional and psychosocial limitations impacting not only the patient, but also their family, social and professional network.” 

Dr. Amrein has completed post-graduate research through the University of Southern Queensland on the complications involved in rare disease treatments worldwide. 

The project explored how various groups such as medical professionals, regulatory bodies, pharmaceutical companies and governments could overcome issues such as costly treatment development.

“Pharmaceutical companies usually make decisions on which drugs to pursue and continue to develop, based on rigorous analysis of data generated from randomised clinical trials that involve large numbers of patients. 

“Orphan drugs, however, are developed to treat rare diseases where patient populations are very limited and often not yet diagnosed and therefore identified,” he said. 

And this is where artificial intelligence could come in.  

Bridging the gap with AI


So what is artificial intelligence? In its broadest definition, AI is giving a machine the ability to perform tasks without the assistance of people and essentially be able to ‘think’ and ‘learn’.  

AI might sound like the stuff of science fiction but is already being used by many of us. If you’ve ever used Siri or Google Now, or a ride-sharing app like Uber, these are powered by AI. This technology is also being used for speech and facial recognition, website customer service chatbots, stockmarket patterns predictions, and in self-driving cars.  

The most common application of AI is machine learning, where advanced machines use large datasets to analyse data, detect patterns and learn from them. The more data they have access to, the better they are at detecting relationships and patterns in the data – often much more quickly and accurately than the human eye. 

When it comes to rare diseases, AI has the potential to not only help diagnose rare diseases sooner but also help improve the treatment development process.  

“Collecting real-world data seems to be the only viable way to obtain long-term information to understand the genuine impact on the overall healthcare and wider economic systems,” Dr. Amrein said.  

“One way forward could be to utilise new technologies such as artificial technology to collect, collate, analyse and help to interpret the vast data needed to properly gauge the impact and needs linked to rare diseases, so we can rapidly develop more and more effective therapies. 

“Rare disease patients and their families are counting on us.” 

Source: USQ