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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