Archive by category | Genetics

Businesses ready whole-genome analysis services for researchers

By Trevor Stokes The cost of sequencing an individual’s entire genome has fallen precipitously over the past five years, from around $100 million for the first personal genome to under $5,000 today when sequencing services are purchased in bulk. In response, a handful companies have started developing whole-genome annotation services that give clinical researchers lacking expertise in bioinformatics the ability to use genomic data for disease-discovery and drug-response testing. One company, Knome, based in Cambridge, Massachusetts, already offers a package deal. For about $5,000 it will sequence and annotate a genome—with a minimum order of ten genomes. Meanwhile, two California  … Read more

Mutations in mitochondrial DNA provide another strike against induced stem cells

In 2007, after the University of Wisconsin’s James Thomson first created induced pluripotent stem (iPS) cells from human skin tissue, he told the New York Times that “by any means we test them they are the same as embryonic stem cells.” But over the past year or so, researchers have begun to realize that isn’t the case.  Read more

Centenarian genetics study retracted

Researchers from Boston University today issued a retraction notice for a controversial paper published last year that purportedly described a predictive test for living to and beyond 100 years. The July 2010 study identified 150 single nucleotide polymorphisms that clustered into three subgroups. On the basis of these genetic factors, the study authors claimed that they could predict an individual’s likelihood of exceedingly long life with 77% accuracy.  Read more

Companies vie for a cut of the gene-editing market

By Daniel Grushkin Researchers hoping to write the next chapter of biomedicine know that their progress will hinge largely on their ability to edit genes — cutting out unwanted DNA and manipulating the sequences they want to keep. Acolytes of gene-editing technology have recently been encouraged by early data about Sangamo BioSciences’ new zinc finger nuclease–based therapies. In March, the California biotech reported preliminary phase 1 trial results showing that its HIV treatment, which uses editing to turn off the gene for the receptor on the cell membrane that the virus exploits, was safe and effective at improving people’s T  … Read more

Gene tests for brain injury still far from the football field

Gene tests for brain injury still far from the football field

By Alla Katsnelson Last month, doctors released the autopsy results of former Chicago Bears star Dave Duerson, confirming speculation that the professional football player had suffered from chronic traumatic encephalopathy (CTE), a form of dementia thought to be caused by years of head injuries sustained on the field. Did he carry a genetic signature that predisposed him to the disease? For almost two decades researchers have hunted—some would say in vain—for genes that might make people more susceptible to dementia from traumatic brain injuries. In February, just days after Duerson committed suicide by a shot to the stomach, researchers published  … Read more

‘DNA magician’ awarded $500,000 genetics prize

‘DNA magician’ awarded $500,000 genetics prize

The researcher who performed key recombination experiments in the early 1970s and advanced the field of reverse genetics was awarded this year’s genetics prize from the Peter and Patricia Gruber Foundation, a philanthropic organization based in the US Virgin Islands. Established in 2001, the award — which comes with a gold medal and an unrestricted $500,000 cash award — this year went to Ronald Davis, a pioneer in innovative biotechnologies, the foundation announced yesterday. Davis, director of the Stanford Genome Technology Center in California, has a long list of firsts. Among them, he was the first to clone a eukaryotic  … Read more

Ribosome freeze frame offers new perspective on microbial defenses

Ribosome freeze frame offers new perspective on microbial defenses

With an estimated 175,000 deaths attributed to hospital-acquired infections each year in Europe alone and a dwindling arsenal of effective antibiotics to combat these superbugs, researchers have been striving to develop new antibacterial medicines. But these efforts have been hampered by scientists’ limited understanding of the basic molecular machinery that microbes use to thwart medicine’s best weapons.  Read more

Researchers find genetic clues to overcoming African livestock disease

Researchers find genetic clues to overcoming African livestock disease

Each year, an estimated 30,000 people in Africa are diagnosed with the crippling muscle wasting disease known as sleeping sickness. But the problem is far worse for the dairy and meat-producing cattle upon which their lives depend, as an estimated 5 billion cows die of Nagana, the animal form of the disease. Now, scientists hope to generate heartier, disease-resistant cattle — and the discovery of two new genes reported this week could help with that goal.  Read more

Newborn screening programs need better consent rules, experts say

Newborn screening programs need better consent rules, experts say

Each year, doctors collect blood from more than 4 million babies in the US as part of the routine genetic screening programs required by all 50 states. To ensure accuracy and reproducibility as well as facilitate the development of new diagnostic tests, state public health laboratories retain residual blood samples for later analysis. But according to a new study out this week, most states do not explicitly require that parents are informed that their children’s blood samples are kept or used for research purposes. “State departments of health that retain dried blood samples and use them for research without specific  … Read more

Fingering cell dynamics: Zinc fingers let researchers watch cellular action in real-time

Scientists typically study cells in real-time by introducing glowing reporter proteins into cultured cells and then watching the action unfold under the microscope. But, these probes, introduced at random throughout the genome and expressed at high levels, can interfere with cellular systems and introduce unwanted toxicity.  Read more