Children's Hospital Boston

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.

A Mount Sinai researcher described early results from the clinical trial aimed at evaluating the utility of genomic sequencing in healthy and ill newborns.

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A new study in JAMA finds that genetic tests might not be able to determine what diet is right for someone seeking to lose weight.

A genome-wide association study that linked common genetic variants to salivary gland carcinoma risk has been retracted, according to Retraction Watch.

Vampire bats' ability to live off blood is etched in their genomes and gut microbiomes, the Scientist reports.

In Genome Biology this week: peopling of the Sahara, epigenetic reprogramming analysis of liverwort, and more.