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.

While gene therapies may have high price tags, they could be cheaper than the cost of managing disease, according to MIT's Technology Review.

Researchers are looking for markers that indicate which cancer patients may respond to immunotherapies, the Associated Press writes.

In Nature this week: paternal age associated with de novo mutations in children, and more.

Nature News writes that researchers are still wrangling over the role of the p-value.