neuromuscular disorder

Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.

The partners will use whole-genome sequencing to investigate the molecular pathways involved in GNE myopathy, a progressive muscle-wasting disease.

A curation working group established a framework that considers the nature and strength of the available evidence when evaluating gene-disease associations.

Name: Madhuri Hegde
Title: Executive director, Emory Genetics Laboratory

Isis Pharmaceuticals said this week that it has teamed with Biogen Idec to develop antisense-based drugs for neurological and neuromuscular disorders.

A consortium of 18 European and Australian institutions and industry partners will spend five years sequencing the exomes of 1,100 patients with neurodegenerative and neuromuscular diseases to create diagnostic panels and uncover novel therapeutic targets.

Researchers in the Neuromuscular Disorder-Chip Consortium will use custom-designed NimbleGen Human CGH 12x135K microarrays and Human Sequence Capture 385K arrays to study the genetic underpinnings of a range of neuromuscular disorders.

A European consortium involving more than a dozen research institutions will use NimbleGen arrays in their study of neuromuscular disorder genetics.

Germany's Project DEAL has come to an agreement with the publisher Wiley over journal access and open-access publishing, ScienceInsider reports.

Researchers uncover additional loci associated with lifespan, which the Telegraph says could be folded into a genetic test.

A Canadian panel recommends public coverage of the gene therapy Kymriah if its cost comes down, the Globe and Mail reports.

In Nucleic Acids Research this week: new accurate quantification by sequencing approach, CNV breakpoints in Plasmodium falciparum, and more.