Genetic Causes of Three Previously Unexplained Rare Diseases Identified (IMAGE)
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Daniel Greene, PhD, and colleagues used a computational approach to identify previously unknown genetic causes of three rare diseases: primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness. In this microscopy image of cells, a mutated form of a protein called ERG, which is present in some lymphedema patients, is shown in green, while cell nuclei are shown in blue. Normally, the ERG protein exists only inside the nuclei of cells. However, the mutant form observed in patients is distributed outside of the nucleus, in the cytoplasm of cells.
Credit
Daniela Pirri, PhD, and Graeme Birdsey, PhD, of the National Heart and Lung Institute, Imperial College London, who are both co-authors of the Nature Medicine paper.
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