ataxia

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.

Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.