Next Generation Sequencing is No Longer Next

A large number of pediatricians trained in the “dark era” of Mendelian genetics--prior to next generation sequencing technology--when syndromes were paired with eponyms, such as Osler-Weber-Rendu syndrome for a rare autosomal dominant syndrome with hereditary hemorrhagic telangiectasias (HHT) affecting blood vessels throughout the body. In t his volume of The Journal, Engel et al report an historical cohort study from a single institution examining the prevalence of HHT and capillary-malformation arteriovenous malformation (CM-AVM) among children without a prior genetic diagnosis who presented with brain or spinal cord arteriovenous mal formations (AVMs) or arteriovenous fistulas (AVFs).
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: The Editors' Perspectives Source Type: research