Protein prenylation and inflammation: new insights into the pathophysiology and treatment of mevalonate kinase deficiency

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This project is focused on a genetic, potentially fatal, inflammatory disease that appears in infancy. We have developed a new way of detecting the underlying defect as well as the first animal models that have the same genetic mutations and mimic the disease. With these revolutionary new approaches, we will discover the exact cause of the inflammation, test a new way of diagnosing the disease, and identify new and better therapies that treat the underlying cause rather than just the symptoms.