Today is a very important day in the history of AKU, as it is Sir Archibald Garrod’s birthday! Sir Archibald Garrod discovered AKU in 1902; the first genetic disease ever to be discovered. In this week’s blog we celebrate his fantastic achievements!

On 25th November 1857 Archibald Garrod was born. He later went on to become one of the greatest minds of modern genetics and medicine and discovered the first genetic disease, AKU! Here at the AKU Society, we are excited to celebrate Garrod Day and acknowledge where this AKU journey all began!

Who was Sir Archibald Garrod?

Archibald Garrod was born in London in 1857 and was the son of physician, Alfred Baring Garrod. Although his father initially intended for him to study business, his teachers recognised and encouraged him to go into the field ofscience and medicine.

Garrod studied natural sciences at Christ Church, University of Oxford, where he graduated with an honours degree in 1880. He then went on to receive medical training at St Bartholomew’s Hospital. In 1885 he obtained his Bachelor of Medicine and Master of Arts from Oxford and became a member of the Royal College of Physicians in London.

He developed an increasing interest in chemical pathology, and investigated urine chemistry as a reflection of systematic metabolism and disease. In particular, his research focused on a few families with AKU. He realised that it followed an ‘autosomal recessive’ pattern of inheritance, meaning that a child who received the mutated gene from both of its parents would develop the condition.

In 1902, Garrod published a book called ‘The Incidence of Alkaptonuria: a Study in Chemical Individuality’. This is the first published account of a case of recessive inheritance in humans.

Over the next decade he developed an understanding of the possible nature of inherited diseases of metabolism. He believed that diseases were the result of missing or false steps in the body’s chemical pathways. In 1923, his studies on Alkaptonuria, Cystinuria, Pentosuria, and Albinism were published in the book ‘Inborn Errors of Metabolism’.

As it became clearer that Garrod had pioneered a new field of medicine, he was increasingly honoured in England and abroad. He received many distinctions for his work, including election as a fellow of the Royal Society, of which he was vice president from 1926-1928.

AKU Today

Now, 113 years on from Garrods discovery, the AKU Society are running a European Clinical trialmeasuring the first potential treatment for AKU. Clearly this has been a very long journey from discovery, but with the help of passionate patients, families and medical experts, the first genetic disease ever discovered is getting the recognition and support it deserves!

To celebrate Garrod Day, we have hosted our very first AKU Coffee Morning in our Cambridge office this morning – check our blog next week to hear all about it!

If you have hosted your own Coffee Morning to celebrate Garrod Day, please share your experience and pictures with us by emailing eve@akusociety.org.