Genetic causes of three previously unexplained rare diseases identified

Using a new computational approach developed to analyse large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues including the University of Bristol, have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterised by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.

* This article was originally published here