Every so often, someone comes up with a new idea that is truly visionary. The first time you see it, you may not immediately appreciate how transformational it might become.




Dr. Tim Yu's work in running the first "N of 1" drug trial falls in that bucket. As an attending physician in Boston Children's Hospital's Division of Genetics and Genomics, Tim was caring for a young patient with a devastating genetic mutation. He suspected her condition could be treated with an adaptation of an existing class of therapies, and he also knew that she was likely the only person in the world who would benefit from that drug. Instead of accepting the conventional wisdom that N of 1 means you don't have a valid experiment, Tim asked himself a bold question: "Why not try to give her the therapy?"

Tim went to the FDA, created a toxicology package, got it approved, manufactured it, and created a lifetime supply for his patient.

This therapy will only benefit one patient. And yet the kernel of this idea holds the potential to be transformative for rare disease patients everywhere. As physicians, we start to ask ourselves, "Why not create personalized treatments for patients with rare diseases?"

Timothy Yu, Boston Children's Hospital Timothy Yu, Boston Children's Hospital

This is a task that will play out over decades. It will require scaling our ability to manufacture personalized therapies and do toxicology studies on them. Most importantly, we'll need to train the next generation of physicians to generate therapies for individual cases, take them to the FDA for approval, and then treat patients longitudinally.

We should not underestimate how far this could go. If we could treat patients iteratively with new therapies as they come along, we could dramatically accelerate progress in drug development for rare diseases.

I don't think there are many clinical investigators I admire more than Tim and what he's achieved in this domain. He is truly a generous and compassionate physician, humble to a fault, thoughtful, and a deep scientist. He's not just an incredible innovator, he's an incredible human.