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. Image 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.

Mount Sinai researchers help identify previously unknown genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness 

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. 

Using this new approach developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness. The work was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; the University of Tokyo; the University of Maryland; Imperial College London, and others from around the world.

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