Children's Hospital Boston

At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.

The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests. 

Research teams documented mosaic mutations during brain development, as well as rising somatic mutations in aging brains or brains affected by neurodegenerative disease.

The project has identified carrier variants in 109 infants so far — a total of 232 variants in 166 genes — according to a presentation at ASHG today.

The one-year partnership will focus on identifying patients with abnormal pain conditions and validating the genetic findings as potential targets for drugs.

Gene Therapy for ALD

A new study suggests that gene therapy could help boys with the brain disease adrenoleukodystrophy, the New York Times reports.

Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.

The IP stems from the work of Anjana Rao, who identified 5-hydroxymethylcytosine (5hmC) as a cancer diagnostic biomarker.

A pair of papers has linked mutations in the DCC gene to agenesis of the corpus callosum as well as to a new syndrome.

The BabySeq project faces lower-than-expected enrollment rates, according to ScienceInsider.

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Mice in New York harbor both antibiotic-resistant bacteria and novel viruses, according to a new analysis of their fecal microbiomes.

Human Heredity and Health in Africa Initiative has issued guidelines for genomic research in the region, according to Nature News.

The Associated Press reports that an ethicist predicts that prenatal diagnosis and other advances will lead to more choices being available to prospective parents.

In Genome Biology this week: approach to analyze alternative polyadenylation, algorithm to predict transcriptomic structural variations, and more.