ataxia

The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.

PacBio is refining the CRISPR/Cas9 capture technique with several early- access sites and plans to launch it more broadly in 2018.

Distinct alterations affecting each copy of the SCYL1 gene were linked to a form of ataxia called human hetapocerebellar neuropathy syndrome in three individuals.

The deal does not cover Voyager's fledgling effort to use RNAi to treat amyotrophic lateral sclerosis.

One award will be used to create methods of identifying potentially cancer-causing or other detrimental mutations in induced pluripotent stem cells, and the other will be used to conduct research into a group of genetic diseases.

The method is currently available from Asuragen as a research-use-only PCR kit, but the company is hoping that the publication is an important step toward developing a routine PCR-based diagnostic for the disorder.

Researchers are refining a tool to predict a woman's risk of developing breast cancer, according to the Guardian.

According to Stat News, the partial government shutdown in the US could soon affect the ability of the Food and Drug Administration to review new drugs.

In PNAS this week: gypsy moth genome sequenced, phylogenomic analysis of Polyneopterans, and more.

CNN reports that people's genes tend to have a greater influence on their risk of developing disease than their environment, but it varies by phenotype.