AACR 2010: The opener

The opening ceremonies of AACR started with a sombre set by the Howard University Choir, and then launched into a ear splitting techno-infused video called “It’s Our Time” flashing some stats about cancer that for researchers are both uplifting (today the survival rate for acute lymphoblastic leukemia is 85% compared to 4% in the 1960s) and challenging (85% of adults with cancer are interested in clinical trials but only 3%-4% participate).  Read more

AACR 2010: Volcanic ash permitting

I’m heading down to Washington D.C. this evening for my first American Association for Cancer Research meeting. It could have been my second. I was supposed to go to Toronto in 2003, but an outbreak of Severe Acute Respiratory Syndrome (SARS) in the city forced organizers to reschedule. I’m starting to wonder if I’m bad luck for this meeting.  Read more

ASHG 2008: Huntington surprises

Albert LaSpada of the University of Washington in Seattle was able to reverse Huntington symptoms in a mouse model of the disease using a transgene expressing PGC1alpha. He presented details of his study on Wednesday, but gave a little additional background at a press conference this afternoon. It’s one of those lovely genetics discovery stories that not only offers promise for a devastating disease, but comes together so neatly when looked at in hindsight, I just had to relate it.  Read more

ASHG 2008: 1000 Genomes, some numbers

I couldn’t leave this be. I’ll be writing more about it soon, but these numbers are just staggering. David Altshuler gave a status report on the 1000 Genomes project, which aims to plumb the depths of human variation (I’m still waiting for the 1KG handle to take off). As it nears completion of its three pilot phase projects, it’s generated 3.8 trillion bases of genome sequence. Although they haven’t yet sequenced 1,000 genomes, that is technically 1,000 human genomes worth of sequence data. Altshuler said that if you take the amount of data that was in GenBank at the start of the project, they put in roughly that amount more for each week of September and October.  Read more

ASHG 2008: Something I didn’t know about November

It’s family history month, explained Ed McCabe of UCLA, president elect of the American Society of Human Genetics. This was at a press conference announcing the society’s statement on ancestry testing, but he wasn’t advertising for direct-to-consumer testing companies. Rather he suggested that this Thanksgiving, we should take the time to ask our elders about where we came from. Learning about the cultural richness of family history, he said, is very different from knowing that your genes say your are 40% european, for example.  Read more

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