I came across this story on Reddit, but it’s clearly of interest to anyone who wants to know what personalized medicine is – and how it can be used to save people.
Of course, since we’re at the dawn of the era of personalized medicine, this particular story is a slow moving lament, rather than the fast paced race to a cure it should be. But, that’s science. Every day, we get better at making cures and treatments available, and stories like this are just one more good reason to get up in the morning and go to work. Hopefully, future generations will be able to get results earlier and will have more actionable outcomes that lead to cures.
For the record, I don’t know the person who wrote the story and have never heard of if this particular disease before. However, the techniques (whole exome sequencing, finding mutations, etc) are the same as those used at sequencing centres around the world – and require large teams of people to perform. The field that I personally study is making sense of the raw data generated, but it’s just one big piece of the puzzle. Behind all the science discussed in the article is a great team of researchers who work REALLY hard to make stuff like this happen.