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Posts tagged ‘rare diseases’

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

The reality of rare diseases

A sample coming out of liquid nitrogen (Credit: Pablo Rojas, Wellcome Images)

A sample coming out of liquid nitrogen (Credit: Pablo Rojas, Wellcome Images)

Today is Rare Disease Day, which aims to raise awareness of conditions that few people have heard of. Farhana Ali, Executive Officer for Rare Disease UK (RDUK), the national alliance for people with rare diseases and all who support them, explains why research into rare diseases is so important.

Imagine that you or your child is diagnosed with a disease that you’ve never heard of, one for which there is no treatment, only a baffling array of medical appointments to treat various symptoms. That’s the experience of many people diagnosed with a rare disease.

Most such diseases affect multiple parts of the body. For example, muscular dystrophy, a condition which causes muscles to waste and weaken, can affect muscles in the limbs, chest, heart and face. There are many different types of muscular dystrophy and their severity can vary greatly from person to person. Patients with the condition have complex and long-term healthcare needs, which means that a range of different health professionals need to be involved in their care and treatment. Read more