by Jake Meyer

We've all talked to animals before, but never have the animals talked back.  Recent research makes the possibility of a day when the family dog calls your name, and tells you to sit and shake hands a little more probable.  Researchers at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany have placed a human language gene in a strain of mice.

Although there are undoubtedly numerous genes that enable human speech, the replacement of the mice's FOXP2 gene with a human version of the gene had some surprising effects.  The mice with the human FOXP2 gene grew nerve cells with a more complex structure in the basal ganglia–a region of the brain used in language in humans.  The mice also had a new "voice."  When baby mice are separated from their mothers they make ultrasonic whistles.  But in the mice with the human gene, the whistle was a lower pitch.

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 by Jake Meyer

Earlier this week, a lawsuit organized by the American Civil Liberties Union was filed challenging the validity and constitutionality of patents on the BRCA1 and BRCA2 breast cancer genes owned by Myriad Genetics.  The plaintiffs in this case include: women who wish to have testing for the BRCA1 and BRCA2 genes; researchers who have the capabilities to offer testing for these genes but are unable to because of Myriad’s patents on the BRCA1 and BRCA2 genes; medical organizations; and women’s health organizations.

The presence of the certain mutations in the BRCA1 or BRCA2 genes is associated with a predisposition to breast or ovarian cancer.  Women who have these mutations are much more likely to develop these cancers and men who have the mutation can pass the mutation to their daughter.  Women who learn they have these mutations will often opt for drastic surgeries, such as a mastectomy or oopherectomy (removal of the ovaries) to avoid a battle with breast or ovarian cancer.  However, Myriad Genetics owns patents that cover both the BRCA1 and BRCA2 gene sequences and mutations of the genes, which grant Myriad a monopoly over the gene sequences (for an example of one of Myriad’s patents click here). Myriad is the only company that offers genetic testing for BRCA1 and BRCA2 in the U.S. and therefore women cannot get second opinions before making decisions about major surgery.  Also, since Myriad has a monopoly on testing, it can charge whatever it wishes for the testing – currently the test costs over $3,000.  Many insurance plans don’t cover this testing and many people can’t afford the out of pocket cost of the test – so testing isn’t available to them.  Further, according to a 2006 study, Myriad’s test can miss certain mutations that help cause the disease.

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 by Jake Meyer

This week, the scientific journal, Nature published a commentary about gene patents.  In their article, “The Dangers of Diagnostic Monopolies,” Robert Cook-Deegan, Subhashini, Chandraskharan, and Misha Angrist, state that “patents have not caused irreparable harm in genetic diagnostics, but neither have they proven greatly advantageous.”  458 Nature 405-406 (26 March 2009).  The commentary recognizes that gene patents do cause a problem through the monopoly provided by a patent or exclusive license.  Exclusive licenses are difficult to invent around and the reality is that exclusive rights to testing for multiple common genes or variants associated with a disease ends up in the hands of one provider, even if they’ve only patented one or two of the genes.  The authors, concerned with the effect of exclusively licensed gene patents on the patient’s rights, propose that patient’s rights should have priority over patent rights when the patent holder interferes with the purpose of patent law – “to promote public good through advancing science and technology.”  The authors state that the rights of the patient should trump the rights of the patent holder if the patent holder does not permit:

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 by Jake Meyer

Stephen Friend, a former senior vice president at Merck & Co., and Eric Schadt, the former executive scientific director of a subsidiary of Merck & Co.,  have announced plans to create an open-access online database of medical research called Sage, with the hopes of making it the "Google of biological science."  Sage was designed "to create open access, integrative bionetworks, evolved by contributor scientists, to accelerate the elimination of human disease."  According to Friend, "biology has mostly been archivists building up stacks of data," producing "linear data that set out . . . variations, rather then give us an understanding."  By establishing a forum where researchers can view and post data, Friend hopes to create a dynamic database of clinical, genetic, and other molecular data where researchers can collaborate and develop novel solutions to complex diseases.  It will take time for the project to develop into the global network of scientists Friend imagines; however, he hopes to start by addressing a few core diseases, including metabolic diseases, diabetes, and cancer.

Studies conducted by researchers at Merck's subsidiary, Rosetta, which resulted in at least nine papers published in peer reviewed journals in 2008, serve as the foundational research for Sage.  To help launch the project Merck is donating equipment and software, the pharmaceutical company Whitehouse Station is donating genomic information that doesn't relate to its drug discovery programs, and the Massachusetts General Hospital (affiliated with Harvard Medical School) is donating brain tissue samples.  A 3-5 year "incubation period" is planned for Sage during which it will operate in partnership with only a select few universities (potentially including University of Washington, Yale University, and University of California at San Francisco).  During this period, Sage's governing rules will be tweaked and a tool kit will be created for submission and review of the database.  The development model of Sage is similar to Facebook by making the website available only to select universities with minimal features before expanding to researchers at other universities, and eventually the public. 

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