Dr Nicolas Sireau is Chairman and CEO 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) 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, turning them black ‚Äď hence it is also called Black Bone¬†Disease.
The AKU Society is a fast growing international patient movement. We work with AKU research teams, clinical¬†centres, biotech and pharma partners across the world. We launched in November 2012 a major five-year¬†programme of international clinical trials for a promising new treatment called Nitisinone as part of an EC-funded consortium. The website of the AKU Society is¬†www.akusociety.org
.Dr Sireau is on the Management Committee of Rare Disease UK, the national alliance for people with rare¬†diseases. He is the editor of the book ‘Rare Diseases: Challenges and Opportunities for Social Entrepreuneurs’¬†(Greenleaf, 2013). He is also the Founder and Chairman of Findacure (www.findacure.org.uk
), a foundation that¬†seeks to change conventional thinking about rare diseases by funding scientific research into fundamental¬†diseases: rare diseases that are gateways to understanding common diseases.
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