Science Market Update

2012 was a big year for the science of snipping DNA to introduce genetic changes into a cell, also known as genome editing. Though Science magazine hailed two new techniques for selectively cutting and pasting DNA in the field of genome engineering as together constituting one of the Top 10 scientific breakthroughs of the year, those methods may already have been surpassed by researchers at the University of California Berkeley using RNA and a single protein. Faster, simpler, and cheaper, the UCB team led by Dr. Jennifer Doudna published initial results of their work genetically modifying bacteria using the RNA-based DNA cleavage technique last summer. The response from the the life science community was extremely positive, with reviews calling it a "tour de force" and a "a real hit," according to the latest press release. Now three more papers are coming out based on the work of the Doudna Lab showing that the RNA programming technique using a bacterial enzyme known as Cas9 is equally effective in making alterations to human genes.

Researchers trying to find ways to help cure children of disease before they are born with it face an uphill challenge, in part because research on human embryos (even research that might result in a human embryo) is limited by the federal government when federal funding is at issue. Yet progress is being made, notably in the case of mitochondrial diseases passed from mother to child. A gene therapy procedure being studied and tested at Oregon Health Sciences University puts the nucleus of an egg cell with the mother's DNA into the scooped-out mitochondrial shell of another, healthier woman's egg cell. Then the egg is fertilized in vitro and gestated in utero. When research on nonhuman primates three years ago was a success (the monkeys are all alive and well), they tested the basic steps of the procedure with donated human eggs. They brought the hybrid eggs to the blastocyst stage, then cultured lines and did testing on them. At least 20% of the fertilized samples would have been viable for placement in utero.

Dr. Cynthia Kenyon and her colleagues at the University of California, San Francisco, started on an ambitious project two decades ago (much challenged at first): to combat age-related diseases by figuring out what the genetic basis is for aging itself.  That research has produced results that have quite literally changed the terms of the debate, overturning the previous assumption that aging was haphazard and unrelated to genetic behavior.  Thanks to Dr. Kenyon's determination to pursue her research, we now have several enticing keys to the way that bodies get old, or not, and we know that genes do in fact regulate the process of deterioration that tends to accompany aging.  "Aging youthfully" might best describe the longterm aim of Kenyon's work, or "negligible senescence," meaning that age does not lead inevitably to decreased vigor and increased susceptibility to disease.

You know there’s been a paradigm shift in the world when complicated biomolecular problems are solved by gamers, as in the recent, much-reported case of an AIDS protein solution worked out by Foldit players in a crowdsourcing research challenge posed by scientists at the University of Washington.  In the longrun, the most significant part of this remarkable story may be the experiment itself and the implications it has for the way we think about work and play, and how that might influence the way we approach future research challenges.  UW computer game scientists and biochemists developed the online game Foldit to see if non-scientist gamers could be taught enough science and engaged long enough to work out a scientific problem.  And it turns out they can. 

      According to the U.S. Centers for Disease Control and Prevention, about 5.8 million Americans suffer from heart failure, with over half a million new cases diagnosed each year. Fatality of this disease is one in five within the first year of diagnosis. Often treated with aggressive medical and device therapy, heart disease has no cure. Symptoms include shortness of breath, exhaustion, and extremity swelling in the ankles, feet, legs, and occasionally the abdomen.