Genetic Causes of Three Previously Unexplained Rare Diseases Identified
NEW YORK, March 16, 2023 /PRNewswire-PRWeb/ -- 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.
- Rare diseases affect approximately 1 in 20 people, but only a minority of patients receive a genetic diagnosis.
- Genome sequencing of large cohorts of rare disease patients provides a route toward discovering the genetic causes that remain unknown.
- The researchers identified 260 associations between genes and rare disease classes, including 19 associations previously absent from the literature.
- "We also plan to apply our methods in novel ways and in other datasets, with the aim of continuing to unravel the genetic causes of rare diseases."