Finding commonalities in rare diseases through the undiagnosed diseases network.
When studying any specific rare disease, heterogeneity and scarcity of affected individuals has historically hindered investigators from discerning on what to focus to understand and diagnose a disease. New nongenomic methodologies must be developed that identify similarities in seemingly dissimilar conditions.
Author(s): Yates, Josephine, Gutiérrez-Sacristán, Alba, Jouhet, Vianney, LeBlanc, Kimberly, Esteves, Cecilia, , , DeSain, Thomas N, Benik, Nick, Stedman, Jason, Palmer, Nathan, Mellon, Guillaume, Kohane, Isaac, Avillach, Paul
DOI: 10.1093/jamia/ocab050