Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Target: Mutation
February 01, 2012
The US Food and Drug Administration has approved "the first therapy to treat an underlying cause of cystic fibrosis, a pill that targets a genetic mutation affecting a small minority of patients suffering from the life-threatening breathing disorder," The Wall Street Journal reports. Vertex Pharmaceuticals' Kalydeco targets G551D, a mutation in the cystic fibrosis transmembrane conductance regulator, or CFTR, gene. FDA approved the drug to treat the approximately 4 percent of cystic fibrosis patients who have the G551D mutation, WSJ reports, adding that Kalydeco "will be among the most expensive therapies on the market, costing $294,000 a year."