Welcome to the home of the findAKUre consortium. We are a collection of scientists, clinicians and patient groups working to find a cure for a rare, genetic disease Alkaptonuria (AKU). We aim to move towards preventative and curative therapies for AKU through a multi-disciplinary analysis of its natural course and pathophysiology with a specific focus on ochronosis.

To this end, we have assembled a worldwide team of clinicians, cell and molecular biologists, experts in histopathology, bioinformatics and proteomics who will undertake a series of interrelated, innovative work packages.

We will investigate the pathogenesis of ochronosis in a cohort of AKU patients, in two novel in vitro models using fungus and human cells and in animal models using transgenic mice. Electron microscopy, proteomics and mass spectroscopy will reveal the fundamental steps in the development of ochronosis.

In addition, the in vitro and animal models will be used to screen potential gene and non-gene therapies, the former designed using state-of-the-art bioinformatics.

One hundred years after Garrod, the knowledge that we acquire in the proposed programme, findAKUre, will bring us to the point where we will be able to introduce effective therapeutic strategies for AKU.

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This website was set up as a part of a
Research grant from the Big Lottery Fund