Q: This will be CamRARE’s 5th summit. What is the most impactful and promising change you’ve seen happen in rare disease progress in the last 5 years?

The increasing application of advanced technologies, like artificial intelligence (AI), has really revolutionised drug discovery and treatment development for rare diseases. AI enables incomparable speed and lateral thinking on a scale that is impossible for humans to achieve alone. Broadly speaking, AI has the potential to make the drug development process quicker, cheaper and more efficient. This technology can make it easier to scan vast libraries of chemical compounds that might be able to treat a certain disease, can speed up the analysis of biomedical information from the literature, and can help companies recruit the most suitable patients for clinical trials. AI can also streamline the design of better drugs and incorporate new data, such as genomic analysis, to help personalized medicine become a reality. It’s been great to see companies start to embrace this technology and realise its benefits for rare disease patients and their families. At Healx, we use AI to accelerate the pace, increase the scale and improve the chance of success of rare disease treatment development in order to have unprecedented patient impact. Indeed, in our leading programme for Fragile X, the leading genetic cause of autism and learning difficulties in the world, we moved from the in silico discovery phase to identification of active preclinical combination therapies in under 18 months – a fraction of the time taken by legacy drug development methods thanks to our novel AI prediction methods.

Q: How has your work impacted rare disease progress over the last 5 years?

Since being founded in 2014, we’ve been focused on re-engineering the entire drug discovery and development process from the ground up. At the core of our approach is Healnet, our next generation drug discovery platform that uses cutting-edge AI to rapidly discover novel disease biology and modes of action, and identify non-obvious connections between that biology and existing compounds. Critically, Healnet is hypothesis-free, meaning we don’t limit ourselves to a single target and we let our technology automatically find matches between known compounds and rare conditions. This is a big step away from the phenotypic-based and target-based methods of traditional drug discovery, and has meant that we’ve been able to operate on a scale – and with a probability of success – unique within the industry. Over the last few years, we’ve built a robust and growing therapeutic pipeline of preclinical and clinical programmes, with a Phase 2a clinical trial due to start later in 2021. We’ve also established partnerships with dozens of leading biotechs and patient groups around the world – including Ono Pharmaceutical Co. Ltd., Boehringer Ingelheim, FRAXA Research Foundation and Mission: Cure – in order to drive forward cutting-edge treatment development for rare diseases.

Q: What next? What do you want to see happen or change in the next 5 years that will have the most impact on diagnostics, care or treatment for those affected by rare conditions?

Within the drug discovery industry, I’d like to see more collaboration with patient groups. Patients are the rare disease experts after all, and embedding their experience and expertise is a critical part of successful treatment development. We’ve really benefited from working closely with them from the outset of a project, and I strongly believe that their input has, and will, result in better treatments.