Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The researchers observed that eliminating these microsatellite repeat expansion RNAs in patient cells reversed some hallmark features of the diseases.

Genome.One's GoNavigate test will analyze the genetic risk for 49 disorders, as well as PGx variants related to more than 220 drugs.

With the new certification in hand, the company plans to expand its business in the US through its Pennsylvania-based subsidiary, B. Braun CeGaT.

A study by researchers in Italy found that preimplantation genetic diagnosis and screening combined led to more successful pregnancies per transfer but fewer women had embryos transferred.

RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.

The ancestors of the Arizona bark scorpion and other scorpions and spiders underwent whole-genome duplication, KJZZ reports.

A cryptographic approach could help researchers keep genomic data private while researchers analyze it, Scientific American reports.

Andy Page, the former president of 23andMe, has joined a diabetes-management startup, according to CNBC.

In Cell this week: regulatory changes in pancreatic cancer, metabolic shifts in Alzheimer's disease, and more.