There are six billion characters in our DNA. All of us have spontaneous typos in this code — a mutation. Some typos, like Lydia’s, cause serious diseases. Collectively, there are seven million people in the U.S. suffering from typos that affect the brain. Majority of affected are children. This doesn’t include the millions who have already died from these. Pre-natal genetic testing does not look for these. Because a typo can happen in one of billions of characters, there are only a handful of patients with the exact same one. For Lydia’s, there are only two others in the entire world — one in Greece and one in England. At position 683 of the gene KCNQ2, an A was mistyped as a G. That’s all it took.
This is a classic long tail problem — no mutation is common enough, but collectively there are tons. The existing Pharma approach to treat these is broken — they look for common typos and fix them with long drawn out trials. This barely makes a dent. Worse, they have put each in its own bucket and labeled them as rare, so the majority of the world feels they‘re not important to fix. How can these be rare when collectively there are millions with these mutations? The rare label is wrong and limits progress. These are not rare. These are genetic and have the same root cause. We need a systematic, platform-driven approach to fix these typos. We need a spell check.