Nick Dand, a PhD student at King’s College London, explains his research developing tools to find the genetic mutations that cause rare diseases. This article was commended for the 2013 Max Perutz Science Writing Award.
Finding a needle in a haystack is – presumably – not easy. But in theory, with enough time and a lot of patience most of us could probably manage it, especially if we cheated a bit (with a magnet?). So let’s make the problem harder. Now we’ve lost our needle in a haystack which already happens to contain hundreds or thousands of other needles, all subtly different in shape or size. Even if we can pull out all of the needles we’re stuck: how can we find our needle when they all look so similar?
Identifying the genetic mutations that cause rare diseases feels a lot like the “too many needles” problem.
Recent technological breakthroughs mean we can now read a person’s entire genetic code, the blueprint found in every cell that guides how our bodies develop and function. It is a sequence of three billion nucleotides (which can be A, C, T or G) and is organised into units called genes, each having a specific function. Most of the code is identical from person to person (that’s what makes us all humans) but a tiny fraction can vary (that’s what makes us different humans). Read more