Archive by category | Genetics

Study challenges genetic conventions in personalized medicine

Study challenges genetic conventions in personalized medicine

A more refined genomic approach to personalized medicine could make drugs such as statins safer for patients, the authors of a new paper recommend. Hospitals increasingly use genetic testing to determine whether people are at risk for developing toxic levels of certain drugs in their bloodstreams due to common genetic variants that cause slower clearance of medication by the liver. A study published today in Genome Research strengthens the case for health providers to incorporate tests for rare variants that also influence how the body clears medications from the blood. The study focused on the medication methotrexate, used to treat  … Read more

Straight talk with… Steve Brown

Straight talk with… Steve Brown

For decades, the study of gene function has relied heavily on the creation of ‘knockout’ mice, bioengineered to lack certain genes. But making a rodent without a specific gene is a chore—so much so that doctoral students sometimes dedicate their entire PhD work to generating a single mouse strain. The International Knockout Mouse Consortium (IKMC), launched in 2006, plans to change all that. The consortium, involving scientists from 33 research centers in nine countries, is creating a library of every gene knockout in embryonic stem cell lines, which can be used to produce mouse strains.  Read more

New mouse models of autism highlight need for standardized tests

New mouse models of autism highlight need for standardized tests

Most laboratory mice, when meeting new cagemates, will sniff the strangers thoroughly. But the mice in Matthew Anderson’s lab instead sit alone, licking their paws repetitively. They ignore other mice, avoid new toys and rarely make noise. Taken together, the abnormalities closely resemble the behavioral symptoms seen in people with autism, a disorder that has been proven difficult to accurately recapitulate in animal models—until recently.  Read more

NEWS FEATURE: Autism, authenticated

NEWS FEATURE: Autism, authenticated

This past spring, Christian Schaaf sat back and watched seven-year-old Lily play in his office at the Baylor College of Medicine in Houston. She looked just like any other girl her age, he recalls, but she didn’t seek interaction or even eye contact in the way a child normally would. Instead, she communed with a corner of the room, excitably hopping and flapping her arms as if that spot held a treat too great to bear. Without peering into the file in front of him, Schaaf knew what afflicted Lily. “I’ve seen enough children that when I see someone with autism, I have a high suspicion for it,” he says.  Read more

Sequencing projects bring age-old wisdom to genomics

Posted on behalf of Brendan Borrell Helen ‘Happy’ Reichert died in September. She was a lifelong New Yorker, a former television talk show host and Cornell University’s oldest alumna. She was 109. Despite her death, however, Reichert’s memory may live on through her genome sequence. Today, the nonprofit X-Prize Foundation — best known for its attempt to spur the development of private spaceships — launched a $10 million competition to accurately sequence 100 genomes from 100 centenarians over the course of one month, starting 3 January 2013. According to Craig Venter, who sits on the X-Prize advisory board, next-generation sequencing  … Read more

Massive biobank yields first results with more to come, organizers say

Massive biobank yields first results with more to come, organizers say

MONTREAL — In a conference room here at the International Congress of Human Genetics (ICHG), Kyle Lapham loads an app on his iPhone and a four-way split screen of various pieces of lab equipment pops up on the display. “This is a live view of my robot right now in San Francisco,” he says. Lapham, a lab automation specialist at the University of California–San Francisco (UCSF), has the ability to constantly monitor his robot so he can conduct experiments around the clock. And, with this setup, he has managed to run the largest analysis of telomeric DNA to date in  … Read more

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

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 cell counts. Two months later, Sangamo scientists presented additional evidence at the American Society of Gene & Cell Therapy meeting in Seattle demonstrating in mouse and cell models the technology’s promise in a number of other diseases, including hemophilia, so-called ‘bubble boy disease’ and a form of acquired blindness.  Read more