Musculoskeletal

News on in vitro diagnostics for musculoskeletal disorders.

Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.

The Lantern Project will screen for patients who may be suffering from Gaucher disease, Fabry disease, Pompe disease, MPS I, or ASMD, and offer confirmatory DNA testing.

Using data for more than 500,000 individuals, researchers found 15 fracture-linked loci and saw genetic interactions between fracture and bone mineral density.

Using genotype and phenotype data from the UK Biobank project, a Stanford investigator uncovered variants linked to low bone mineral density.

An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.

The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.

The Economist reports on Synthorx's efforts to use expanded DNA bases they generated to develop a new cancer drug.

In Science this week: reduction in bee phylogenetic diversity, and more.

Feb
26
Sponsored by
Advanced Cell Diagnostics

This webinar will demonstrate how a research team at the Firestone Institute for Respiratory Health at McMaster University developed a cellular and molecular phenotyping pipeline using archived samples of lung tissue derived from patients diagnosed with fibrotic interstitial lung disease.