Genetic Causes of Three Previously Unexplained Rare Diseases Identified; Computational Approach Developed By Mount Sinai Researchers Helps Identify Previously Unknown Genetic Causes of Primary Lymphedema, Thoracic Aortic Aneurysm Disease, and Congenital Deafness

Using a new computational approach they 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.