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 hope to tease out the signature effects that different carcinogens leave on the genome to determine their contributions to disease, Mosaic reports.

The Wall Street Journal looks into the cost of new gene therapies.

An Imperial College London-led team reports that it was able to use a gene drive to control a population of lab mosquitos.

In PNAS this week: genomic effects of silver fox domestication, limited effect of mitochondrial mutations on aging in fruit flies, and more.