There is no denying that artificial intelligence (AI) is becoming increasingly prevalent in almost every industry, including healthcare, with applications ranging from robot-assisted surgery to symptom-checking apps already on the market. As a sector, drug development also looks likely to see significant growth in the use and application of AI in the near future. This is especially crucial for difficult-to-treat orphan diseases.
Two AI companies are joining forces to tackle some of the rarest medical conditions, known as orphan diseases, such as Duchenne Muscular Dystrophy (DMD).
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Orphan diseases are conditions that affect fewer than 200,000 people nationwide, with around 350 million people worldwide suffer from these rare diseases such cystic fibrosis, Lou Gehrig’s disease, and Tourette’s syndrome.
There are an estimated 7,000 orphan diseases in existence, but because the conditions are so rare, pharmaceutical companies are reluctant to invest the money needed for drug development, laboratory testing and clinical trials as they are unlikely to see a return on their investment.
However, as AI enables researchers to access huge datasets to rapidly test hypotheses without human intervention, it means that new drugs can be discovered and developed at a rate not previously possible, and for a fraction of the cost. With the average cost of bringing a drug to market a staggering $2.7bn, it is easy to see why AI is an attractive option.
AI and drug development
Insilico Medicine, an AI healthcare company, and A2A Pharmaceuticals, a biotechnology company, are partnering with the aim of using AI to discover and develop new treatments for DMD and other rare orphan diseases.
DMD is a genetic disorder characterised by progressive muscle degeneration and weakness. In the UK, about 100 boys are born with the condition each year.
Insilico Medicine’s technology applies advances in deep neural networks, a machine learning method that uses learning data representations to identify disease targets and generate new treatments. A2A will use proprietary computational tools, another type of AI tool, to design highly selective therapeutics for difficult-to-treat drug targets such as protein-protein interactions. The hope is to identify an effective treatment for DMD.
Potential drug candidates have already been designed for targets validated through Insilico’s AI system, which, if successful, will be developed by A2A.
Founder and CEO of Insilico Medicine Alex Zhavoronkov hopes the collaboration will help meet the medical needs of those with the condition, for which there is currently no cure:
“A2A Pharmaceuticals has a team of highly talented drug hunters with a proven track record in discovery, development and licensing of the drug candidates. We are very happy to partner with their team to address the unmet medical needs of patients who are desperately waiting for solutions. This is fantastic application for AI.”
There are other ways AI can be used for orphan diseases
AI is not only useful in drug development, but has the potential to have a significant positive impact on other aspects of both DMD and other rare diseases. In the UK and the US the average time to receive a diagnosis for a rare disease is five to seven years. However, big data could speed up this process. Using AI to identify trends in patient data could enable doctors to diagnose rare conditions sooner.
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One company, Face2Gene, has developed an app that uses facial analysis and AI to analyse features on a patient’s face, compare them with a database and from this provide a list of possible rare diseases.
AI can also be used in identifying the cause of orphan diseases. Canadian company Deep Genomics is using machine learning to identify potential genetic causes for disease.
The technology can also be used in clinical trials, with 3D tissue modelling enabling the toxicity of a drug candidate to be tested without the need for human or animal participants.
Dr Elena Diez Cecilia, head of business development at A2A Pharmaceuticals, hopes AI will help address the need for effective therapies for rare diseases:
“We are pleased to partner with Insilico Medicine, combining our strengths and complementary technologies to accelerate advancement of better therapeutics into the clinic for the patients that need them. Muscular Dystrophy is a debilitating and terminal degenerative condition that causes muscle inflammation and wasting, and there is a huge need for more effective therapies.”