Late-Onset Ataxia Linked to New Repeat Expansion in FGF14 Gene
The repeat expansion appears to coincide with late-onset cerebellar ataxia risk, particularly in patients from a French-Canadian population.
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.
Parkinson's Institute Team Uses CRISPR/Cas9 Capture and PacBio Sequencing to ID Repeat Expansions
PacBio is refining the CRISPR/Cas9 capture technique with several early- access sites and plans to launch it more broadly in 2018.
Exome Sequencing IDs Compound Mutation Behind Rare Ataxia Syndrome
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.