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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.