Monday, November 25, 2013

CAMBRIDGE, UK: Monday 25 November marks the first Black Bone Disease Day, to raise awareness of the world’s first genetic disease.

Sir Archibald Garrod discovered Black Bone Disease, also known as alkaptonuria or AKU, in 1901. He is one of the greatest minds of modern genetics and medicine, and through his discovery of Black Bone Disease he initiated the analysis of a large class of genetic diseases. His work is thought to have laid the groundwork for human genetics.

Black Bone Disease Day, created by the AKU Society, is on Garrod’s birthday. The AKU Society is the patient group for those affected by Black Bone Disease with the aim of finding a cure. It is currently involved in a series of clinical trials of a drug called nitisinone, which is thought to be the world’s first treatment for Black Bone Disease. If administered early enough it could prevent the disease’s debilitating symptoms from developing, effectively making it a cure.

The National Day is designed not only to raise awareness of Black Bone Disease, but of genetics and rare disease. The AKU Society plans to work in schools, host events and run a worldwide awareness campaign, in order to educate and inform the public around the importance of rare diseases. As Garrod said: “Many lessons which rare maladies can teach could hardly be learned in other ways.” 156 years after his birth, his words still ring true.

The day coincides with the government’s announcement of a new rare disease strategy, to improve “support, treatment and research” for people in the country who are affected by rare diseases. The key elements of the strategy include what the Department of Health calls “a clear personal care plan for every patient that brings together health and care services, with more support for them and their families.” This falls in line with the Centre of Excellence for Black Bone Disease, opened in 2012 in Liverpool and called the Robert Gregory National Alkaptonuria Centre. This centre is designed to offer coordinated, personalised care for patients – something many AKU patients previously failed to receive.

AKU Society Chairman and CEO, Dr Nicolas Sireau said: “Sir Garrod is a hero to the AKU Society. Before genetics was a part of medicine, he treated AKU patients and realised the disease was inherited. He was a true pioneer, helping not only Black Bone Disease but the thousands of other genetic diseases which affect millions of people in the UK.”

“Black Bone Disease Day aims to not only raise awareness of the disease and of Garrod’s work, but of the importance of treating rare, genetic diseases.”


Photo: Two patients with Black Bone Disease raising awareness. High res image available upon request.


About Black Bone Disease
Black Bone Disease, or its scientific name alkaptonuria (AKU), was the first genetic disease ever discovered. It causes bones and cartilage to turn black and brittle, leading to a severe form of osteoarthritis and an increased risk of heart disease. Other symptoms include black urine, black spots in the eyes, discoloured ears and kidney, prostate and bladder stones. It is a painful and debilitating disease, with symptoms typically starting when patients are in their 30s. Traditional treatments include pain management and joint replacement surgeries, but these do little to slow progression of disease. Most AKU patients will need joint replacements in their life, with many having over 10 such procedures.
For more information please visit:

About the AKU Society
The AKU Society is a patient group dedicated to helping patients diagnosed with Black Bone Disease. It helps and supports patients, raises awareness of the disease and supports research into its treatment. The AKU Society is based in Cambridge, UK.
For more information please visit:

About Sir Archibald Garrod
Sir Archibald Garrod was an English physician, based in London at St Bartholomew’s Hospital. He was an Edwardian doctor who specialised in metabolic medicine before it was called that.

Garrod studied Black Bone Disease. After treating several patients with AKU, and looking at their family histories, he realised the disease followed patterns. It was quite common for brothers and sisters of patients to also have AKU; for grandparents to be as affected as their grandchildren; and for it to be more common in the children of a consanguineous marriage. He came to realise that AKU was somehow inheritable, centred around an ‘inborn error of metabolism’. 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.

Garrod was the first to propose the idea that diseases were “inborn errors 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 as a book: Inborn Errors of Metabolism. Garrod attributed a biochemical role to genes, and laid the groundwork for the next wave of discovery — the molecular basis of inheritance.

Jenni Thorburn, Online Communities Officer
Email: [email protected]
Office: +44(0)1223 322897