From N-of-1 to Engine of Cures
PKU made newborn screening because of a technical accident. For the other 7,000 diseases, we need infrastructure, not luck.
People with PKU are, in a real sense, the lucky ones. PKU made it onto the newborn screening panel because a microbiologist named Robert Guthrie happened to invent a cheap bacterial assay in 1963. That is not strategy. That is a technical accident of history.
The vast majority of the 7,000+ known rare diseases have no screening test, no established natural history, and often no specialist who has seen more than a handful of cases in a career.
For those diseases, the path to treatment has always been the same: wait for a researcher to care, wait for a grant cycle to align, wait for enough patients to be gathered in one institution to power a study. Most people don't live long enough to see the end of that pipeline.
N-of-1 changes the math. Not as anecdote. As infrastructure.
How N-of-1 Scales
| Patients | What it is |
|---|---|
| 1 | Anecdote |
| 10 | Case series |
| 50 | Signal |
| 200 | Natural history |
| 1,000 | Population model |
| 10,000+ | Engine of cures |
The difference between "my kid does better on this formula" and actionable clinical evidence is structure, granularity, and portability.