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ataxia

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.

Fulgent Genetics Sees Beginnings of Stability After Challenging Start to 2018
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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
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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.

Voyager Inks CNS Alliance with Genzyme
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The deal does not cover Voyager's fledgling effort to use RNAi to treat amyotrophic lateral sclerosis.

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The Scan

Nucleotide Base Detected on Near-Earth Asteroid

Among other intriguing compounds, researchers find the nucleotide uracil, a component of RNA sequences, in samples collected from the near-Earth asteroid Ryugu, as they report in Nature Communications.

Clinical Trial Participants, Investigators Point to Importance of Clinical Trial Results Reporting in Canadian Study

Public reporting on clinical trial results is crucial, according to interviews with clinical trial participants, investigators, and organizers from three provinces appearing in BMJ Open.

Old Order Amish Analysis Highlights Autozygosity, Potential Ties to Blood Measures

Researchers in BMC Genomics see larger and more frequent runs-of-homozygosity in Old Order Amish participants, though only regional autozygosity coincided with two blood-based measures.

Suicidal Ideation-Linked Loci Identified Using Million Veteran Program Data

Researchers in PLOS Genetics identify risk variants within and across ancestry groups with a genome-wide association study involving veterans with or without a history of suicidal ideation.