Jibril Hirbo hails from a tiny mountaintop town called Marsabit, in northern Kenya. Now, as a population geneticist, Hirbo has completed perhaps the largest-ever genetic study of people from Kenya and other East African nations. Read more
Posted on behalf of Chris Gunter Believe it or not, some people are complaining that now the ASHG meeting has too much genomics. This comes after years of dire warnings that the society was ignoring genomics at its own peril. Friday morning featured yet another all-genomics platform session, with multiple talks on sequencing whole human genomes. Matthew Bainbridge of Baylor made crowd laugh by saying all we need is an assay with 100% sensitivity and 100% specificity. In the meantime, he’s using a method of sequencing a genome on two different platforms and comparing the results. He and others at … Read more
Posted on behalf of Chris Gunter In 2006 I blogged from ASHG’s career development session and hate to say that not much has changed. Back then I said “The session was kicked off by Bill Lindstaedt, Director of the UCSF Office of Career and Professional Development. He delivered the depressing news first: the median age of first tenure-track positions is 38; the median age of receiving a first NIH research grant R01 is 42; and only 4% of such grants go to first-time investigators.” … Read more
One of the major themes of this meeting is personalized medicine – the promise that some day, doctors will be able to tailor treatments for all of us based on our genetic makeup. Scientists and researchers are excited about the future prospects of personalized medicine, but there are also huge questions about how useful it will really be. Social scientists are wondering: can patients can handle genetic information? Will they overreact upon learning they have some small increase in risk for a disease? Or will the information wash over them like the myriad public service announcements exhorting us to eat right and get more exercise – messages that, apparently, most of us have learned to ignore? Read more
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
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
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
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