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.
Celebrate in Your Favorite Jeans
The National Institutes of Health's Office of Rare Diseases Research and Clinical Center, along with the Food & Drug Administration's Office of Orphan Product Development, the National Organization for Rare Disorders, and the Genetic Alliance, are jointly celebrating Rare Disease Day today in the US. NIH is holding a free, public event featuring posters and talks dedicated to rare disease research. The agency is also asking "all attendees to wear their favorite pair of jeans" to the event as part of its association with the Global Genes Project.