neuromuscular disorder
Datavant, Cerebral Palsy Research Network Seek Genetic Clues to CP
Barrow Neurological Institute and the University of Utah will use Datavant technology to link known mutations to phenotypes in the disease registry.
Cerebral Palsy Genomic Study Points to Rare Damaging Mutations as Disease Contributors
Whole-exome sequencing of 250 parent-offspring trios provided evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.
TRAF7 Mutations Implicated in Rare Multisystem Disorder
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
Neuromuscular Disease Foundation, PerkinElmer Partner on Rare Disease Research
The partners will use whole-genome sequencing to investigate the molecular pathways involved in GNE myopathy, a progressive muscle-wasting disease.
ClinGen Team Presents Proposed Gene-Disease Association Classification Framework
A curation working group established a framework that considers the nature and strength of the available evidence when evaluating gene-disease associations.