MetaFilter posts tagged with genomics and research

Breast cancer rules rewritten in 'landmark' study

Blasdelb — Mon, 05 Nov 2012 00:58:09 -0800

What we currently call breast cancer should be thought of as 10 completely separate diseases, according to an international study which has been described as a "landmark". The categories could improve treatment by tailoring drugs for a patient's exact type of breast cancer and help predict survival more accurately. The study in Nature analysed breast cancers from 2,000 women [Abstract] . It will take at least three years for the findings to be used in hospitals. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups [Abstract] The elucidation of breast cancer subgroups and their molecular drivers requires integrated views of the genome and transcriptome from representative numbers of patients. We present an integrated analysis of copy number and gene expression in a discovery and validation set of 997 and 995 primary breast tumours, respectively, with long-term clinical follow-up. Inherited variants (copy number variants and single nucleotide polymorphisms) and acquired somatic copy number aberrations (CNAs) were associated with expression in ~40% of genes, with the landscape dominated by cis- and trans-acting CNAs. By delineating expression outlier genes driven in cis by CNAs, we identified putative cancer genes, including deletions in PPP2R2A, MTAP and MAP2K4. Unsupervised analysis of paired DNA–RNA profiles revealed novel subgroups with distinct clinical outcomes, which reproduced in the validation cohort. These include a high-risk, oestrogen-receptor-positive 11q13/14 cis-acting subgroup and a favourable prognosis subgroup devoid of CNAs. Trans-acting aberration hotspots were found to modulate subgroup-specific gene networks, including a TCR deletion-mediated adaptive immune response in the ‘CNA-devoid’ subgroup and a basal-specific chromosome 5 deletion-associated mitotic network. Our results provide a novel molecular stratification of the breast cancer population, derived from the impact of somatic CNAs on the transcriptome.

master of information

kliuless — Sat, 09 Apr 2011 11:00:18 -0800

The New Biology - Eric Schadt's quest to upend molecular biology and open source it. (via)

"You Can't Patent Nature"

zarq — Wed, 31 Mar 2010 12:53:09 -0800

Followup to this post: A US District Court has ruled that Myriad Genetic's patents on breast cancer genes BRCA1 and BRCA2, which allow them to hold exclusive rights to a widely used genetic test for inherited breast and ovarian cancer susceptibility, are invalid. Genomics Law Report analyzes the ruling in two posts. The decision is likely to be challenged in a legal appeal — but if upheld, it could have huge implications for the biotechnology industry. Biotech stocks tumbled after the announcement. Fortune's Daily Brainstorm blog asks, "Is the DNA Patent Dead? GenomeBoy: After the Gold Rush Discover: Tuesday’s decision, if upheld, could have wide repercussions for the multi-billion dollar biotech industry, which is built on more than 40,000 gene patents. Already, about 20 percent of the human genes have been patented. The decision, however, is not binding on other federal courts and other judges may or may not abide by it. But it does the set the stage for years of litigation over other gene patents. Myriad Genetics plans to appeal the judgment.
AOL Daily Finance: "After a U.S. District Court ruling yesterday, women in America may soon be able to get the same access to inexpensive, verifiable gene-testing for breast cancer that women in Europe currently enjoy."

I'm sure this'll end well....

zarq — Mon, 22 Feb 2010 09:48:15 -0800

We may soon be able to clone Neanderthals. But should we? An essay from Archaeology Magazine examines the ethical, scientific and legal ramifications. (Via Heather Pringle's Time Machine blog, where essay author Zach Zorich posted a reply and elicited a response.) Background: Last year, a team of researchers led by geneticist Svante Pääbo at the Max Planck Institute announced that they had completed a draft sequence of the Neanderthal genome. The project was begun in 2006. William Saletan covered some of the same ground in Slate in 2008, as did Reason.com last year: One science fiction trope says that it is impossible for two intelligent species to evolve simultaneously on the same planet since one would inevitably out-compete the other. This may have happened on our planet. Neanderthals disappeared around the same time that modern humans began to move into their territory. New research suggests that our ancestors killed them off. Perhaps we should use modern science to resurrect Neanderthals in order to right an ancestral wrong.

Do they preserve scientific transparency, protect profits or both?

zarq — Wed, 13 May 2009 10:16:38 -0800

On behalf of medical organizations, universities, & individual patients, pathologists and genetics researchers, the ACLU has filed a lawsuit against Utah-based Myriad Genetics and the US Patent and Trademark Office. Myriad holds the US patents to the BRCA1 and BRCA2 genes, associated with hereditary causes of breast and ovarian cancers. Their patents guarantee the company the right to prevent anyone else from testing or studying those genes, which the ACLU says is unconstitutional and inhibits researchers from finding treatments and cures. The ACLU has posted a FAQ explaining the suit. It might be news to some that genes, gene fragments and the tools used to assess them can be patented. Here's some general info on patent eligibility and qualifications. Some question whether such patents spur or stifle research Myriad's BRCA test to measure the likelihood that someone would develop ovarian or breast cancer was in the news a couple of years ago, when a study revealed that it produces false negatives. Concerns were also raised in the EU over the patents when they were initially filed. Previously on MeFi