KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
All the Ps
March 09, 2010
In MIT's Technology Review, Lee Hood discusses his P4 — "powerfully predictive, personalized, preventative — meaning we'll shift the focus to wellness — and participatory" — medicine idea. When asked what technologies will spur this change, Hood says that patient genomes will be "a standard of medical records in 10 years or so," that protein levels in blood will be measured using nanotechnology approaches, and that single cell analysis will aid in understanding disease states. The challenges, he says, are the data and societal acceptance. Hood adds that he is starting a P4 Medical Institute. "The idea is to bring in industrial partners as part of this consortium to help us transfer P4 medicine to the patient population at Ohio State University, which is both the payer and provider for its employees," he says.