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