Children's Hospital Boston

Two thirds of families who attended enrollment sessions signed up, but those who did not voiced concerns about privacy, discrimination, and return of results.

The SCN3A gene, which encodes a voltage-gate sodium channel in the brain, also controls oral motor development, including swallowing, tongue movement, and speech.

Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.

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.

Pages

In a statement, National Institutes of Health Director Francis Collins says sexual harassment is "morally indefensible" and "unacceptable."

Octopuses might owe their intelligence to their liberal alterations to their genes, Cosmos reports.

Stat News and ProPublica report that African Americans are underrepresented in cancer clinical trials.

In Cell this week: genomic analysis of abdominal aortic aneurysm, effect of probiotics on the microbiome, and more.