In this week's Nature, University of Oxford-led researchers report the use of low-coverage whole-genome sequencing to identify two genetic variants associated with major depressive disorder. With broader studies failing to find robustly replicated variants associated with the condition, the investigators narrowed their sample pool to roughly 5,300 Han Chinese women with major depressive disorder. They found two loci on chromosome 10 that were associated with the disease, including one very close to a gene called SIRT1, which is known to be involved in the production of mitochondria. GenomeWeb has more on this study here.
Also in Nature, an international team of researchers presents the results of a study in which they sequenced the genomes of 110 small cell lung cancer patients, discovering biallelic inactivation of two genes — TP53 and RB1 — in nearly all patients examined. The researchers also found that 25 percent of the tumors carried inactivating mutations in the Notch family of tumor suppressor genes. Reactivation of Notch signaling in a mouse model of the disease lowered tumor burden and extended the animals' lives. GenomeWeb also covers this here.
And finally, a group from the University of Georgia reports on the use of the genome-editing technology CRISPR/Cas9 to modify the diarrhea-causing microbe Cryptosporidium as part of an effort to improve researchers' ability to study the parasite. Currently, Cryptosporidium is difficult to continuously culture and lacks robust animal models. However, the team was able to introduce a highly sensitive luminescent reporter molecule into the parasite, propagate it by transplanting it into the small intestine of mice, and then use CRISPR/Cas9 to disable a gene believed to be involved in its resistance to a key anti-malaria drug.