Archive by category | American Society of Human Genetics

ASHG 2008: A stance, more or less, on genetic ancestry testing

ASHG released recommendations today about how researchers and direct to consumer companies should treat the sometimes fraught area of genetic ancestry testing. Although a seemingly innocuous area both for research and for consumer products, ancestry testing does carry with it tricky ethical, legal and social issues when one considers how people might treat such data. I did a quick Q&A with Charmaine Royal of Duke University, who co-chaired the task force on the topic (find it here).  Read more

ASHG 2008: Copy number variations and their effects on the brain

Geneticists are taking an increasing interest in copy number variants (CNVs), genetic sequences that can be repeated or deleted from individual to individual. I might have two copies of a gene, while my wife might have three. These are a major source of genetic variation and have been implicated in contributing to important diseases. Alexandre Reymond of the University of Lausanne explained work he’s been involved with to characterize CNVs in mice. Looking at lab strains and several wild mice, they uncovered nearly 3000 of them. Then to understand how these CNVs might be affecting phenotype, they looked at gene expression in different tissue types in the mice to see if genes in and around those CNVs might be differentially expressed depending on how many copies there were.  Read more

ASHG 2008: Health, ancestry and Montel Williams

Ancestry testing can be a sensitive subject as evident in a packed morning session discussing some of the social and education aspects of ancestry and genealogical testing. While genetics has a long and sordid past with the term race, it remains a fact (possibly as a vestige of how populations have been studied) that ethnic groups show distinct genetic signatures associate with commonly delineated ethnic groups, and there could be health benefits to using this information. Esteban Gonzalez Burchard at the University of California San Francisco studies African American and Latin American groups. He talked of one project on Multiple Sclerosis that he had been collaborating with.  Read more

ASHG 2008 Kicks off

Last night the American Society of Human Genetics meeting started in Philadelphia and kicked off with a crowded mixer featuring classic Philly fare (hoagies and pretzels). I asked Aravinda Chakravarti what he thought the major themes of the meeting would be. He said he was glad to report that the field has moved slightly away from data to new ideas. New ideas including better understanding of the genetic structure of disease and the characterization and understanding of the meaning of structure in the genome, including copy number variations (a term that appears in the abstract book more than 200 times). That’s not to say that data have taken a back seat.  Read more

ASHG: More bad news

Last night, NIH director Elias Zerhouni warmed up the geneticists with a sure-fire crowd-pleaser: a joke about the mishaps of Vice-President Dick Cheney, who’s in town for a Republican fund-raiser. Zerhouni apologized for the bad traffic yesterday, which was all tangled up due to Cheney’s motorcade. Zerhouni said he’d asked Cheney to divert his motorcade away from the convention center. In reply, Cheney invited Zerhouni on a hunting trip. “But I said no – I have a prior commitment to the American Society of Human Genetics,” Zerhouni said, adding after a small pause: “That was an act of self-preservation.”  … Read more

ASHG: Recovering from Katrina

Even just walking to and from the convention center here in New Orleans, it’s impossible to miss the fact that this city is still recovering from the mass disaster of Hurricane Katrina last year. Lots of businesses are empty or shut down. Workers are still clearing away rubble and there’s small damage on some of the buildings. And this isn’t even the part of town that was most affected by the storm.  Read more

ASHG: Jobs or bust

At least 250 postdocs and grad students attended a networking session here Tuesday night, in the ASHG’s new drive to provide content for younger members. The message was sobering: available academic positions are decreasing, and the number of PhD’s keeps increasing. What to do?  Read more

ASHG: What we stand to GAIN

OK – so genetics hasn’t delivered a slam dunk cure for fat. You still have to give up chocolate cake if you want to lose weight. As our interloper asked this morning, what gives? Where’s the wonder drug that’s going to save our sorry asses from dieting and exercising?  Read more