Fanconi anemia is a genetic disorder that leads to bone marrow failure, and also predisposes individuals to developing certain types of cancer. Fanconi anemia is caused by mutations in DNA repair genes, though it does not map neatly onto a particular DNA repair pathway.
A new way of analyzing computerized tomography (CT) angiography, the standard method for imaging blood vessels to look for potential blockages, could help find future trouble spots before they are causing trouble.
By screening for glioblastoma targets in vivo using mouse models with patient-derived xenografts, researchers have identified new potential targets for drugs to treat glioblastoma.
Two groups reported that vaccinating melanoma patients with personalized, tumor-specific antigens led to progression-free survival in the majority of patients over roughly two years of follow-up. The results were reported in back-to-back papers in the July 6, 2017, issue of Nature.
Changes in the 3-D organization of chromosomes in neurons affected the expression of genes that are important for the formation of neuronal connections and that have been implicated in schizophrenia risk, researchers at the Mount Sinai School of Medicine reported in the July 3, 2017, issue of Nature Genetics.
Researchers from the International Mouse Phenotypic Consortium have published the comprehensive phenotypes of more than 3,300 knockout mice, describing mouse models for 360 diseases.
SAN DIEGO At the State of Innovation session during BIO 2017, a brief exchange neatly summed up the current status of big data. Noting that clinical trial expenses and success rates have not changed appreciably as the amount of data that is collected from patients, most prominently but not only through genome sequencing, has increased, venture capital firm Flagship Pioneering's Jeremy Springhorn lamented that "there's all this information out there, yet we're not using it."