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ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

In the journal Brain, researchers from the University College London, King's College London, and other centers consider genetic testing for amyotrophic lateral sclerosis (ALS), where testing is typically offered to individuals with early-onset sporadic disease or a family history of the neurodegenerative condition. With targeted sequencing, the team searched for clinically actionable ALS-related gene changes in blood samples from nearly 6,300 patients with sporadic ALS. When the authors further broke down incidence rates by age and sex for a subset of 1,551 patients enrolled in the UK, they found clinically actionable results in a significant proportion of patients over 40 years old. "[T]his large, global study, combining both genetics and epidemiology, provides robust evidence to recommend that genetic testing in ALS should not be restricted by age of onset or family history," the authors conclude. "Instead, with increasing gene therapies on the horizon and potential for precision medicine, the gold standard should be to offer genetic testing to all patients with apparently sporadic ALS, regardless of their age of onset."

The Scan

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.

Study Tracks Outcomes in Children Born to Zika Virus-Infected Mothers

By following pregnancy outcomes for women with RT-PCR-confirmed Zika virus infections, researchers saw in Lancet Regional Health congenital abnormalities in roughly one-third of live-born children.

Team Presents Benchmark Study of RNA Classification Tools

With more than 135 transcriptomic datasets, researchers tested two dozen coding and non-coding RNA classification tools, establishing a set of potentially misclassified transcripts, as they report in Nucleic Acids Research.

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.