This project will aim to advance knowledge of the rare genetic condition Alstrom Syndrome, bringing health benefits in the short term and the prospect of genetically engineered treatments in the longer term. It will also reveal the true incidence of the condition, uncovering undiagnosed cases; set up the first nationwide database of patients and establish the first Alstrom blood and tissue bank. Beneficiaries will include undiagnosed patients and those given hope of new treatments.