Inherited Disease
News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
Sick Infants Profiled with WGS See Better Diagnosis, More Care Changes
The results shore up prior studies and add to the growing evidence for the benefits of rapid whole-genome sequencing in critically ill newborns.
The technology has been licensed by MGeneRx, which plans to commercialize it in the US first, then expand to low- and middle-income countries.
Sensorion, Sonova Partner for €7M Hearing Loss Genotyping Study
The firms have jointly funded a new study that will analyze genetics and clinical disease features of thousands of patients with age-related hearing loss.
Blueprint Genetics to Analyze Biobank Samples for Rare Diseases in New Finnish Study
Researchers plan to identify and sequence the exomes of 3,000 individuals from the biobank who are likely to have one of a number of rare diseases.
Risk Related to Genetic Contributors Can Decline With Age for Some Common Diseases
Analyses of UK Biobank data indicated that the relative risk for some common diseases may be more pronounced for younger individuals carrying disease-related genetic factors.