Archive by category | Genetics

Greater oversight needed for genomic tests, experts say

Greater oversight needed for genomic tests, experts say

With an eye to advancing ‘personalized medicine’, clinicians have tried to predict who will respond to certain therapies using biomarkers gleaned from tests that probe genomics, proteomics and other branches of biomedicine. But according to a report from the US Institute of Medicine (IOM), such ‘omics-based’ tests require greater regulatory oversight and more transparent data-sharing before they should be allowed to move from the lab to the clinic.  Read more

Doubts about usefulness of gene testing for antiplatelet drug prompt video rebuttal

Doubts about usefulness of gene testing for antiplatelet drug prompt video rebuttal

A textbook example of pharmacogenomics is the testing of the CYP2C19 liver enzyme gene to predict how well people will metabolize the antiplatelet drug Plavix (clopidogrel). Many cardiologists have such confidence in the link that they preemptively genotype people before administering the drug. Last year, US regulators even added a ‘black box’ warning to clopidogrel’s prescribing information noting the the link between certain genotypes and reduced drug efficacy. But a new meta-analysis published in the Journal of the American Medical Association (JAMA) this week reports that such preemptive moves might be premature.  Read more

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

By Sarah C P Williams 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. “When I first started working on this, I really wondered whether we’d be able to study autism in a mouse,” says Anderson, a neuroscientist at the Beth Israel Deaconess Medical  … 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