Genetics 2010: Grants by the numbers

At the last evening keynote address for the MOHG, Jeremy Berg, the head of the National Institute of General Medical Sciences presented some early data coming out of the NIH’s new peer review policies instituted last year. As part of the new system, members of the review committees for grants are instructed to rate individual applications on a scale of 1 to 9 for the quality of five different categories: significance, investigator, innovation, approach, and environment (meaning the institutional support available to the investigator). Although these criteria are not calculated into the overall score upon which research decisions are made, Berg says they can serve as a parallel indicator of what the review panels seem to value the most.  Read more

Genetics 2010: A model for Lesch-Nyhan, 20 years in the making

At the MOHB today, Alaine Keebaugh of Emory University presented work that helps to explain a 20-year old puzzle in mouse and human genetics. In the late 1980s Mario Cappechi and Oliver Smithies disrupted the first gene in mouse embryonic stem cells, a mouse homologue of the human gene, HPRT1. The gene was a useful target because it was on the X chromosome, meaning that they only had to knock out one copy in a male embryonic cell line to completely abolish production of the protein. And they had a way to test that the protein had been eradicated. The knockout mice that resulted from this work transformed genetics and earned Cappechi and Smithies a Nobel Prize. But surprisingly, aside from the verifiable lack of the protein, the mouse was unremarkable, not very different from wild type.  Read more

Genetics 2010: Neurogenetics wants you!

At the MOHB this morning, Pamela Sklar of Massachusetts General Hospital presented data from the Psychiatric Genome-wide Association Study Consortium (PGC). One of its projects on bipolar disorder looked at the genomes of more than 7,000 cases of the disorder against 10,000 or so matched controls trying to find differences that correlate with an increased risk for the disease. What they’ve found was not different from what many genome-wide association studies have found. Four strongly associated genetic regions popped up in their study, but the individual amount of risk for the disorder that they contribute is quite low. For this  … Read more

Genetics 2010: Model sex

At the MOHB meeting this morning the topic was sex, specifically that topic sure to stir up the hornets, the differences between sexes. Nirao Shah of UCSF and Melissa Hines from the University of Cambridge talked about how hormone levels might be responsible for shaping brain differences. But Eric Vilain, who studies intersex individuals at UCLA offered some surprising takes on the differentiation in the brain as it may be shaped by epigenetics, that is environmentally influenced changes that don’t affect the sequence of the genome but alter its expression. Specifically he was looking at methylation of DNA, which marks active and inactive genes in a few dozen pairs of maternal twins discordant for sexual orientation.  Read more

Genetics 2010: MOHB rule

In Boston this weekend, researchers from diverse fields and backgrounds have converged to discuss how traditional model organisms like yeast, flies and the worm C. elegans, promise to contribute to the understanding and hopefully the treatment of human disease. It’s the third biennial meeting called Genetics 2010: Model Organisms to Human Biology (which has the inexplicably pleasing acronym, MOHB). Scott Hawley of the Stowers Institute and current president of the Genetics Society of America, which organized the meeting, is a fly researcher. In his opening remarks yesterday evening, he noted that the divide between biologists studying human biology and those studying model organisms is often too great. “We want to reach out and have more contact with people doing other things,” he said. With a line up of talks on everything from personal genomics to sex determination neurogenetics and infectious disease, it promises to deliver that kind of contact.  Read more

AACR 2010: Cancer genomes keep coming

Cancer genomes have been a hot topic at this year’s AACR. I stopped in to see a session hosted by Elaine Mardis, Washington University’s genome maven whose been an author on most of the big cancer genome papers to date. In the session, we heard from Todd Golub of the Broad Institute, who gave preliminary results on the multiple myeloma genome, which hasn’t yet been published.  Read more

AACR 2010: The Thermos approach to cancer biology

More research presented today at AACR’s 101st annual meeting shed some light on the mind blowing complexity of cancer. At this morning’s plenary sessions, Alan Balmain of the University of California San Francisco showed how the simple model of cancer initiation leading to progression and metastasis was a vast oversimplification. Cancer cells, he says require help from otherwise normal stromal cells, blood vessels, and inflammatory cells. And while much of the research presented at this meeting has been about cataloguing mutations that are gained in cancer, he’s been trying to better understand the underlying genetic background that plays a role in intrinsic susceptibility to cancers.  Read more

AACR 2010: Cancer gives no simple answers

Arul Chinnaiyan kicked off the day for AACR’s 101st annual meeting in DC by talking about cancer genomes. He gave a roundup of some of the major genomes published to date, many of them in Nature. He even showed a brilliant screenshot of Heidi Ledford’s April 15 feature on the topic. Bert Vogelstein of Johns Hopkins followed up with a talk that seemed too good to be true, asserting that thanks to decades of research, cancer is essentially a known entity. He’s been comparing the genomic landscape of nearly 100 human cancer genomes that have been sequenced to date and other data to come up with 3142 genes that are mutated regularly.  Read more

AACR 2010: The BATTLE wages on

Today there was a lot of buzz surrounding the release of results from the BATTLE trial (Biomarker-integrated Approaches of Targeted Therapy for Lung cancer Elimination), sponsored by the US Department of Defense. This trial, started in 2006 attempted to group patients by predominant biologic features of their cancer, including those that can be characterized by genetic changes in EGFR, KRas, RXR/CyclinD1 or VEGF (all predominant defining molecular signatures lung cancer) and see if they could match these patients with the optimal treatments choosing from four treatment regimens.  Read more