Leading the Technology and Innovation Front Through Rare Disease Research

In a recent video interview with Applied Clinical Trials, Derek Ansel, vice president, therapeutic strategy lead, rare disease, Worldwide Clinical Trials, discussed the unique challenges in rare disease R&D, including competing priorities among researchers, difficulty in diagnosing and treating patients, and defining endpoints due to varying symptoms. Ansel also touched on the potential of technology and artificial intelligence to address some of these challenges and improve rare disease research.

ACT: Looking forward, what advancements or changes would you like to see in the rare disease space to make research more efficient and effective?

Ansel: I think fixing all of the items that I've already mentioned would be of utmost importance. Again, increasing greater global collaboration across the various stakeholders, I think, will always be critical. Rare is challenging. Rare is difficult because of, in essence, what a rare disease is, but I think if we can lay the framework around that global collaboration and working together really helps the next disease community pick up where other leaders have laid the ground there. I'm really encouraged by the use of technology and of AI (artificial intelligence), I'm very much of a skeptic when it comes to that type of technology for various reasons, if you’re interested, happy to discuss more, but I think for a community largely that's been built by technology in its very essence, parents and caregivers have created drugs because of the challenges we see in rare disease, communities have been born because of the internet and the ability to connect directly with other patients as a necessity, because those communities otherwise wouldn't exist. Rare disease, I feel, really leads the technology and innovation front in rare disease research, so I'm really excited to see how they are going to be using AI, whether that's helping diagnose patients faster by looking at pictures of children with dysmorphic features to help get a diagnosis earlier in life, or by using AI, there are various companies out there that are linking the various approved drugs out there. Could they be used to support and treat and increase quality of life in patients who otherwise wouldn't have access to those drugs, and that's really being leveraged by AI, instead of having humans mine through those various datasets themselves in a very manual way, can leverage those technologies to connect to researchers and connect patients to drugs faster.