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 ...
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 ...
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 ...