The speed with which funds from the stimulus package are given out by the NIH or NSF won't comprise the quality of the research, reports Science. To get the money out the door quickly and into researchers' hands, the funding agencies will look to the existing applicant pool and NIH is also soliciting for two-year challenge grants with an application deadline in late April. "Our instructions to the panels haven't changed," says Peter Marsh, the director of NSF's Division of Mathematical Sciences. "We're still looking for the best science."
Researchers from the University of Freiburg in Germany took a functional proteomic approach to discover that AMPA glutamate receptors (AMPARs) are co-assembled in rat brains with cornichon transmembrane proteins, not with the transmembrane AMPAR regulatory proteins with which AMPARs mediate excitatory synaptic transmission in the brain. Cornichons, the researchers say, increase the expression of AMPARs and alter how channels are gated.
Researchers led by Alison Klein say they've identified a germline, truncating mutation that appears to be responsible for a patient's familial pancreatic cancer. As they report in Science Express, they sequenced the patient's tumor, analyzed the coding genes, and narrowed the search to variants in Pa10, in which three genes, SERPINB12, RAGE, and, especially, PALB2, seemed likely suspects. Following up in 96 other patients, they validated PALB2 as a susceptibility gene. At Genetic Future, Daniel MacArthur calls the study a mixed blessing, saying that "filtering out the true disease mutation from the background noise owed a hefty amount to the special properties of tumour suppressor genes, and more than a little luck; this approach will not be so easy in all cancer patients."
Also in Science Express, Cambridge scientists resequenced exons and splice sites of 10 type 1 diabetes candidate genes identified by an earlier genome-wide association study to try to pinpoint the causative genes. They found four variants in IFIH that independently lower the risk of disease and the researchers predict that the variants alter the expression of IFIH1, which is a cytoplasmic helicase. MacArthur also weighs in on this paper and says it's a step in the right direction for rare variants.