214th ENMC International Workshop Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease Heemskerk, The Netherlands, 6 –18 October 2015

At this ENMC meeting, a multidisciplinary group of 26 participants, including 22 clinical and basic science researchers from 11 different countries and 4 patient advocacy representatives convened to discuss the formation of a formal consortium to improve diagnosis and gene discovery for congenital myopathy (CM) and congenital muscular dystrophy (CMD). The mission statement of the consortium is that “every individual with a congenital muscle disease deserves a genetic diagnosis”. The workshop consisted of three sessions: (1) identifying existing diagnostic and gene discovery infrastructure (databases, analysis platforms, phenotyping tools, cohorts, validation work and registries), (2) explo ring current gene discoveries models and tools in the CM/CMD cohort and other disease cohorts, and (3) formalizing next steps towards the establishment of a consortium.
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Workshop report Source Type: research