Dr Nick Sireau, UK

Chairman, AKU Society

Dr Nicolas Sireau is Chairman of the AKU Society, a medical charity that works to find a cure for and support patients with AKU, which affects his two sons. AKU (short for Alkaptonuria) was the first metabolic disease ever identified, in 1901 in London. It is a monogenic disease caused by a missing enzyme, leading to the accumulation of a substance called homogentisic acid at 2,000 times the normal rate. This acid binds to cartilage and bone in a process called ochronosis. AKU is called Black Bone Disease because the ochronosis turns bones black and brittle, leading to severe disability as life progresses.

The AKU Society is a fast growing patient movement, with formal patient groups in the UK, France, Italy and North America, and informal patient groups across Europe. We work with AKU research and clinical centres in the UK (Liverpool and Cambridge), France (Paris), Italy (Siena), Slovakia (Bratislava and Piestany), the US (NIH and San Diego), Jordan (Mutah) as well as partners across the world. We are developing new treatments into AKU and making scientific discoveries that also have implications for osteoarthritis, of which AKU is an extreme phenotype.

Dr Sireau is also a former non-executive Director of GenSeq, a bioinformatics company. He is a fellow of the Ashoka Fellowship of Social Entrepreneurs and of the Royal Society of Arts. Dr Sireau’s previous career was in international development, where he set up SolarAid, an award-winning social enterprise bringing solar power to Africa, and wrote several books on international aid. Dr Sireau has a PhD in Social Psychology, an MSC in Business Management, an MA in Journalism Studies, and an MA (Oxon) in History and Economics.

The website of the AKU Society is www.alkaptonuria.info. Dr Sireau also runs the AKU Guide for Rare Disease Patient Groups, an online blog: akurarediseaseguide.wordpress.com.