Biomedical research is often slow and incremental, but it can take a leap when someone uncovers a hidden connection. Today, one group of researchers is launching a crowdsourcing initiative to pave the way, by harnessing the efforts of lay volunteers who will scan papers for key terms to help create a powerful searchable database. This crowdsourcing curation campaign, dubbed Mark2Cure, is first reaching out to a particularly motivated crowd — the community of people affected by NGLY1 deficiency, a newly discovered genetic disorder.
When birds got their wings, they lost the clawed fingers wielded by their dinosaur relatives. But they evolved a new “finger”—in their face. And what a boon that has been. Agile beaks of all shapes and sizes, from the gulping gape of a pelican to the needle nose of a hummingbird, have enabled the 10,000 avian species to thrive from the arctic to the tropics, build intricate nests, and eat many different foods.
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 meet a growing scientific need. Scientists have used genome-wide association studies (GWAS) to study the roles that genomic variants play in disease. By comparing thousands of genomic variants in people with a disease to thousands without, they can associate genomic variants and regions in the genome with diseases. But these associations don’t necessarily explain what specific genomic variants do or how they might affect the biology and development of disease. “GTEx data allow us to ask questions about genetic variation and its effects on gene expression both in one tissue and across many tissues that we simply couldn’t ask before,” said Dr. Kristin Ardlie, director of the GTEx Laboratory Data Analysis Center at the Broad Institute (Harvard University and MIT, Cambridge, Massachusetts).
Scientists at UC San Francisco and Brown University have figured out the likely way that white-nose syndrome breaks down tissue in bats, opening the door to potential treatments for a disease that has killed more than six million bats since 2006 and poses a threat to the agricultural industry. The fungus feeds itself by exporting digestive enzymes and then importing the break-down products, in a process called extracellular digestion. To understand the digestive capability of this fungus, the scientists first identified all of the exported enzymes and then isolated the one most likely causing tissue destruction. They found an enzyme that could digest collagen, which forms the support structure of tissue. They named this enzyme Destructin-1, and searched through the scientific literature to identify inhibitors that could block its action. “It suggests the fungus is exporting other substances that can degrade collagen,” said Richard Bennett, PhD, an associate professor in the Department of Microbiology and Immunology at Brown University and senior author of the paper.
It’s not yet clear whether these findings will be enough to save many bats, some species of which may soon be threatened with extinction if the fungus continues to spread. Bennett said ecologists may have to try a variety of methods to protect bats from further destruction. “These include ecological approaches for limiting the spread of the pathogen across the U.S., along with new methods for limiting the infection or supporting bat health,” he said.
Nadine Levin has been awarded a Post PhD Research Fieldwork Grant from the Wenner Gren Foundation for her project, “What is metabolism after big data? Health, bodies, and populations in the post-genomic sciences.“
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 in early development. These findings mark the first time that researchers have uncovered the detailed mechanism of action for lncRNA genes.
“For years, we thought about genes as just DNA sequences that encode proteins, but those genes only make up about 1 percent of the genome. Mammalian genomes also encode many thousands of lncRNAs,” says Assistant Professor of Biology Mitch Guttman, who led the study published online in the April 27 issue of the journal Nature. These lncRNAs such as Xist play a structural role, acting to scaffold–or bring together and organize–the key proteins involved in cellular and molecular processes, such as gene expression and stem cell differentiation.
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 — the genetic information that come together and form something new when eggs and sperm collide. Even unconfirmed, those rumors led to a lot of debate about the potential downsides of altering the germ line. Carl Zimmer has more on the controversy at his blog on National Geographic.
The work, led by Junjiu Huang of Sun Yat-sen University in Guangzhou, focused on modifying the gene responsible for β-thalassaemia, a blood disorder that can be fatal. They used CRISPR, a cutting-edge gene editing tool that’s already made serious waves in the genome editing of other species. By going after genes at the earliest stage of human development — in a single-celled embryo — theoretically one can make sure all the subsequent copies of the gene are the superior version. But we have a long way to go before that’s actually the case.