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To mark Rare Disease Day, Dr Noemi Roy talks about a two year project working with patients with rare forms of anaemia, and how she hopes this will translate into research in this area in a new Oxford Science Blog.

Rare Disease Day. It’s only one day, right? Like yesterday was International Polar Bear day, and tomorrow will be Employee Appreciation Day. Now, I have nothing against polar bears, and I’m all for appreciating employees. But let’s spend more than a day thinking about rare diseases. Rare diseases sound, well, rare, and “nothing to do with me, really.”

In fact, there are “over 6,000 rare diseases that affect over 300 million people worldwide”. This works out to 1 in 17 people being affected by a rare disease at some point in their life.

I am a researcher at the MRC Weatherall Institute of Molecular Medicine at the University of Oxford, but also a clinician looking after patients with rare inherited anaemias. These patients are born with a genetic abnormality that means they either can’t make red blood cells at all, can’t make enough normal ones, or their red blood cells are fragile and get destroyed too early. Not enough red blood cells means not enough oxygen to the body. Some patients suffer with fatigue and weakness and can’t keep up with their peers in normal daily activities, while others need blood transfusions. At the worst end of the spectrum are patients whose lives depend on blood transfusions every three weeks from birth.

Read more (University of Oxford website)

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