To gain a clearer picture of health and disease, scientists have now provided an independent reference for all human variation by looking through the evolutionary lens of our nearest relatives. Such a powerful approach has been developed by Temple University professor Sudhir Kumar and colleagues and was detailed in the advanced online publication of Molecular Biology and Evolution. “There are…
A team of researchers led by the University of Cambridge has described for the first time in humans how the epigenome — the suite of molecules attached to our DNA that switch our genes on and off — is comprehensively erased in early primordial germ cells prior to the generation of egg and sperm. However, the study, published in the…
The Genotype-Tissue Expression (GTEx) project consortia, which includes scientists from the Centre for Genomic Regulation (CRG) in Barcelona, have now published their results from their first pilot study in three Science papers. These finding will contribute to a better understanding of genomic variation and give us new clues about disease susceptibility. The GTEx resource is being developed in part to…
Researchers at Caltech have discovered how an abundant class of RNA genes, called long non-coding RNAs (lncRNAs, pronounced link RNAs) can regulate key genes. By studying an important lncRNA, called Xist, the scientists identified how this RNA gathers a group of proteins and ultimately prevents women from having an extra functional X-chromosome–a condition in female embryos that leads to death…
Excerpt: “In March, a rumor surfaced in the scientific community that was intriguing, and perhaps a bit chilling: According to those in the know, researchers in China had successfully edited the genomes of human embryos, altering their DNA in a way never accomplished in our own species. MIT Technology Review reported on the murmurings that someone had altered the germ line —…
Today, the journal Nature Genetics released a set of four papers based entirely on the genetic sequences of Icelanders. Their results, which range from the identification of a new Alzheimer’s-associated gene to the age of the most recent male ancestor shared by all humans, are part of a long history of genetic discoveries from deCODE, a company that has been…