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.
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 Associated Press reports that the US government wasted $341,000 on travel by former Health and Human Services Secretary Tom Price.
Women who post YouTube science videos get more critical comments and more comments about their appearance than male video hosts, the New York Times reports.
The Wall Street Journal writes that participating in genetic research brings up the specter of past research ethics lapses for some African Americans.
In PLOS this week: sequences influencing yeast prion aggregation or degradation, dengue virus genetic variants affect transmission dynamics, and more.