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Posts from the ‘Max Perutz Award articles’ Category

Rare genetic disease: a haystack full of needles

David Willetts and Nick Dand

David Willetts and Nick Dand

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

Why sugary nerves aren’t so sweet

Oliver receives his certificate from David Willetts, Minister of State for Universities and Science

Oliver receives his certificate from David Willetts, Minister of State for Universities and Science

Why does excess sugar in the bloodstream cause nerve damage in diabetes? In his article commended for the 2013 Max Perutz Science Writing Award, Oliver Freeman, a PhD student at the University of Manchester, tells us how he’s trying to find out.

Strewn across my desk are big sheets of A3 paper. Like sprawling cobwebs, lines criss-cross all over them, splattered with a traffic light system. These are diagrams showing the pathways of metabolism. Built up over decades, they describe what happens to chemicals in your cells, and how cells make energy from them.

The traffic light system is for me. It tells me which chemicals go down (red), which do not change (yellow) and which go up (green). I am interested in diabetes, and more specifically the impact that it has on energy generation in the nervous system. The colours denote the differences between diabetic nerves and healthy nerves. Read more

Molecular Fordism: manufacturing a monster

Ben receives his certificate from David Willetts, Minister of State for Universities and Science

Ben receives his certificate from David Willetts, Minister of State for Universities and Science

Viruses are produced on an assembly line just like cars and laptops, and Ben Bleasdale is looking to throw a spanner in the works, as he explains in his article commended for the 2013 Max Perutz Science Writing Award.

Look at your phone on the desk next to you, perhaps the laptop you’re reading this on, maybe a car passing outside the window or a plane overhead. All these machines were made on a production line. Each one representing a list of components, assembled in a precise order to create a series of replicas — each machine becoming greater than the sum of its parts.

Viruses are molecular machines, likewise assembled from a list of parts pieced together in a specific order. Humans weren’t the first to recognise the potential of a production line to rapidly manufacture their Model T motorcars, Nature arrived at the solution first. Read more