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.
In 2019, the AKU Society’s international clinical trial, DevelopAKUre (http://www.developa.. ...more
On Wednesday February 28th the world marked Rare Disease Day (https://www.rarediseaseday.org.. ...more
The AKU Society is thrilled to introduce you to Jamie Rumbelow. Jamie is running the Edinbur.. ...more
Dr. Milad Khedr is a doctor at Royal Liverpool and Broadgreen University Hospitals. He is st.. ...more
To make our website more accessible to visitors with different needs, the AKU Society has in.. ...more