This is uncharted territory for physicians. They’re not used to saying, “What you need to do next is a science experiment.” But for many of these rare diseases, that’s exactly what you have to do.

What kinds of experiments?

It might be building a worm or a fly and testing it. It might be a chemical screen, where you start testing compounds against a cellular or animal model. Or it could be a genetic screen where you’re looking for other genes that interact with the gene driving your disease.

We craft a research plan for them and say, “This is the way you need to go,” and even connect them with the right researchers to make that next step.

Is it really feasible for one family or a small number of people to develop their own personalized treatments?

As you network these companies and institutions together, it’s suddenly changing drug development from this insurmountable process into something that’s actually quite achievable for individual patients or patient foundations.

Do companies see enough of a financial interest in developing a drug to treat just a few hundred patients?

I’ve seen companies get involved in shockingly small diseases. Patient foundations have a major role to play in “de-risking” the science around therapeutic development. If they “de-risk” it enough, companies will jump in.

Your ultimate goal is to find a treatment for all 7,000 known rare diseases.

For all 7,000 now, and however many more remain to be found.

Is that realistic?

Whether it’s realistic or not, it’s a moral imperative that we do it. So, we’ll do it one at a time. I’ve learned it’s not so helpful to focus on what’s possible or realistic anymore. Just focus on the next step, keep taking next steps, and see how far you can go.