alkaptonuria (AKU). However, this is an exception – like the diseases they aim to help, the funding opportunities for rare diseases are rare. Yet rare diseases are important. In 1657 ...

Can also indicate liver problems. ・Dark brown or black: A sign of medical conditions, such as liver disease, rhabdomyolysis, ...

In 1902, shortly after the rediscovery of Gregor Mendel's work by William Bateson 1 and just a few years after the word biochemistry was first coined, Archibald Garrod 2, a practicing physician at ...

Alkaptonuria, also known as Black Bone Disease, has a 1 in 250,000 global incidence. Slovakia holds an unwelcome first place with the highest 1 in 19,000 occurrences worldwide. The disease ...

After observing how alkaptonuria was passed on in families, Garrod proposed that this disease and similar ‘inborn errors of metabolism’ were caused by a defective gene producing a ...

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A MOTHER whose little boy has an ultra rare disorder is appealing for support to fund an essential study and says she "doesn't want time to run out" for her son. Jess Barnes from Patcham was ...