In 1897 Archibald (later Sir Archibald) Garrod was working as a doctor in London’s Great Ormond Street Hospital. A mother came in with a new-born child and a nappy, stained brownish-black. Interested, Garrod did some research. After a while, he found forty different cases of the disease. It seemed particularly common in the children of first cousins. It turned out the baby had an inherited condition, which he called ‘alkaptonuria’. Garrod published his paper ‘The Incidence of Alkaptonuria: A Study of Chemical Individuality’ in The Lancet in 1902. Before anyone had even heard of a gene, he had found the world’s first genetic disease.

‘Garrod Day’, Sir Archibald’s birthday, falls on 25th November. This year, that was a Saturday. The AKU Society instead held their annual Coffee Morning on 30th November, outside the office in Cambridge. At 11am, Ciarán and Reece were ready to start selling cake. Four delicious varieties were on offer: lemon cake, vegan flapjacks, a chocolate Yule log and Rocky Road. There was also gourmet coffee, and a selection of lovely AKU Christmas cards (which can still be bought online here).
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A favourite, we agreed, was the Rocky Road.
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The cakes sold like… hot cakes! All in all, we took in £48.20, which will go to support patients from all over the world at next year’s International Patient Workshop. We are especially grateful to Mary Rose Roberts of Findacure for baking – we are sure Sir Archibald would be proud!
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