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. Nov 5, 2013 Q&A: EGL's Madhuri Hegde on the Need for Comprehensive Array- and Sequencing-Based Testing Premium Dec 13, 2012 Isis, Biogen Idec Ink Antisense Drug-Development Partnership Premium Nov 28, 2012 With $15.5M Grant, EU Consortium to Sequence 1,100 Exomes to Develop Diagnostics for Neurologic Diseases Premium Mar 10, 2009 Roche NimbleGen, Neuromuscular Disorder Group to Merge CGH, Sequencing Data in Study Premium Feb 26, 2009 Neuromuscular Consortium to Use Roche NimbleGen Arrays Breaking News Plasmid Transfer Let Cholera Pathogen in Yemen Become Multidrug Resistant, Study Suggests Harbinger Health Raises $140 Million in Series B Financing BioMérieux's BioFire Defense Secures $18.8M US DoD Contract for Infectious Disease Testing Biora Therapeutics Settles Claims of Misleading Genetic Testing Advertisements Genetic Overlap Between Schizophrenia, Cardiovascular Disease Risk Uncovered by GWAS Analysis The Scan Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. Small Study of Gene Editing to Treat Sickle Cell Disease In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema. Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.