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 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.
Clinicians in Boston are beginning to sequence newborns' genomes, CBS Boston reports.
Clinicians in the hospital will use IBM's Watson to identify possible options for diagnosing and treating rare pediatric diseases starting with kidney disease.
The US Food and Drug Administration has new guidelines that enable some gene and cell therapies to undergo expedited review, according to the New York Times.
Using gene drives to control invasive species might be too risky, an initial advocate of the approach says.
In Science this week: intellectual property experts argue patent battles such as the one over CRISPR are wasteful, and more.
Researchers have grown tumors in 3D cell cultures to better understand cancer, the Economist reports.