Genetics

The 2009 Nobel Prize in Physiology or Medicine was awarded on Monday to three American scientists: Elizabeth H. Blackburn (University of California, San Francisco), Carol W. Greider (Johns Hopkins University), and Jack W. Szostak (Harvard). The three discovered telomeres, short sequences of DNA at the end of each chromosome that act as a protective cap, helping to limit how many times a cell can divide. This New York Times article has a nice description of telomeres and the broader significance of this work for cancer therapies and aging research.

So how much federal funding was invested in this Nobel Award?  According to the National Institutes of Health, approximately $32 million between the three researchers. To the average reader, this sure sounds like a lot. But when you consider that an average 4-year research grant to support a small lab can easily total $1.5 million, and many labs have two or more, it’s actually a bargain.

It’s also worth pointing out that the economic burden of cancer illness and deaths in 2004 alone was nearly $200 billion.

The recognition that telomeres play an important role in aging and cancer – which was not foreseen – serves as yet another reminder why research dollars invested in “basic research” are dollars invested wisely.

As an aside, every time I think of telomeres I recall one of my favorite Saturday Night Live skits, “Stand Up and Win.” It’s the one featuring Jerry Seinfeld as M.C. of a game show. The winner receives a year’s supply of the plastic thingies that protect the ends of shoelaces. Seinfeld exclaims, “They don’t have a name!”

This week, the New York Times published a nice profile on Nobel Laureate Martin Chalfie at Columbia University. Chalfie shared the Nobel Prize in Chemistry last year for his work on an amazing protein found in jellyfish called Green Fluorescent Protein, or GFP. The article is a great reminder of how very basic research on jellyfish and worms, of all things, yields invaluable scientific tools and knowledge.

GFP has the natural property of absorbing invisible ultraviolet light and producing green light – a discovery made in 1961 by Osamu Shimomura (who also shared the 2008 Nobel Award with Roger Tsien and Chalfie).

Chalfie’s “aha” moment, in 1989 at a department seminar, was a recognition that the light-producing properties of GFP could be harnessed as a sort of molecular flashlight. (Read more…)

I recently stumbled across a HowStuffWorks podcast on the topic of allergy-free (hypoallergenic) cats. Nearly 20% of Americans suffer from cat allergies, including me. A company called Allerca claims to have genetically bred a cat that even I could live comfortably with. Curious about the science, I decided to probe a little further.

Turns out Allerca’s claims of a sniffle-free kitty are suspect, to say the least (see this 2006 article from The Scientist, and this ABC News report). There’s never been an independent, peer-reviewed study actually showing that the company’s cats come close to delivering on their promise. The company instead cites its own studies, complete with “scientific” data on their website.

Upon closer examination, however, this data is unquestionably shoddy. (Read more…)

Who thought that Ebay would be the place to get a deal on getting your genome sequenced? From now through May 4, Knome, a Boston-based genome sequencing company, is auctioning off a “Genome Sequencing Experience.”  Starting bid: $68,000, more than $30K off the regular list price. Here’s a link.

The auction is being held to raise awareness of (and money for) the X Prize Foundation’s Archon X PRIZE for Genomics (AGXP), “a global competition that will award $10 million to the first person or team that can sequence 100 human genomes within 10 days at a cost of no more than $10K per genome.”

It will be interesting to see if anyone bids. Sure, it would be exciting to have your complete genetic code on a USB thumb drive. But the amount of clinically useful information you would glean is small, probably not more than you would learn via a thorough family history. As this New York Times article points out, the interplay between genes, environment, and health is a complex one. It will take many years for researchers to sort it out.

There’s also the issue of cost. The price of DNA sequencing has fallen dramatically in recent years. The human genome project, started in 1990 and completed in 2003, cost $3 billion. Just a couple of years ago, the cost of sequencing a human genome fell to $350K, then to under $100K today. Some predict that the $10K genome is just a year or two away. So by waiting just a bit you could save considerable cash, while letting the science develop.

Given these uncertain financial times, I would not be surprised if nobody bids. Were I running the auction, I’d instead sell $20 lottery tickets for the prize. Sell 5,000 tickets (which I’ll bet you could do relatively quickly), and you’ve raised $100K. A $20 genome would be a deal, indeed.

On a related note, one part of the “Genome Sequencing Experience” is a private dinner with Harvard geneticist and sequencing pioneer, George Church (read this Wired article on Church’s work). You can hear Church speak for free on May 11 or May 12 at Northwestern as part of the Silverstein Lecture Series.

An inspiring segment on last night’s episode of 60 Minutes profiled the work of DARPA’s (Defense Advanced Research Projects Agency) “Revolutionizing Prosthetics” program, a $100 million project intent on advancing a field that, in some respects, hasn’t changed much in more than 50 years.

The piece concentrated on the DARPA-funded DEKA arm, developed by inventor Dean Kamen and his team of 40 engineers. Size and comfort were key issues in designing the limb. The final product is the size of an average person’s arm, weighs around nine pounds, and is buffered from the wearer’s body by small balloons that expand and deflate as pressure on the arm changes (the balloons inflate when the wearer picks up something heavy, and deflate when the arm is at rest).  Controlling the arm using their shoulders and pedals in a specially designed shoe, volunteers demonstrated their ability to pick up and drink from a soda bottle and eat a grape.

The end of the segment touched on the future of prosthetic control, featuring Duke University engineer Jonathan Kuniholm. Kuniholm, who lost his forearm in Irag, demonstrated his ability to control a prosthetic hand using the nerves still intact in the remaining part of his arm. These nerves send out small electrical signals, which a processor in a prosthetic arm can be trained to interpret.

Similar work is being done here by Northwestern faculty member Todd Kuiken and his research team at the Rehabilitation Institute of Chicago. They are using an exciting new procedure called targeted reinnervation to reroute nerves that used to control a missing limb to different, intact muscle areas (rerouting nerves that used to control an amputee’s arm to his or her chest muscles, for example). These reinnervated muscles can then communicate with a prosthesis, again allowing the wearer to control their limb intuitively. Click here to read an SiS article on the Kuiken team’s work.

In the past two postings I’ve talked about my experience working with the Science Entertainment Exchange, which aims to improve the quality of science in movies and other forms of entertainment by connecting movie and TV people with scientists who have expertise in something related to their story lines. In my last posting, I addressed some creative ways in which scientists and engineers can be helpful in this endeavor. In this posting, I will address how the entertainment industry can further the agenda of scientists and engineers.

Ten years ago, while I was doing my PhD in neuroscience at the University of Illinois in Urbana-Champaign, the ABC TV news show “Primetime Live” decided to do an exposé on wasteful government funding of science. Their strategy was to ask the main funding agencies for a list of the titles of currently funded projects and pick the ones that sounded the most “out there.” Since my lab was studying prey capture in weakly-electric fish, the project I was working on got picked. Luckily, the executive producer was well informed about science and after trips to several of the labs, where he found that the selected projects had excellent justifications, they switched the tone of the show. It became about how seemingly strange and obscure basic science projects have led to revolutions in our understanding of everything from genetics to brain plasticity. (Read more…)

Welcome to the new Science in Society blog.  It’s official. We’re live.

The goal of this blog is to share Northwestern University’s broad range of scientific interest and perspective. Accordingly, we’ve assembled a group of thoughtful individuals representing the university community: scientists & non-scientists, staff, faculty, and students. (Read more…)

Several years back I taught an undergraduate seminar course on society and genetic technologies. Our liveliest discussion topics were often centered on a technique used by in vitro fertilization docs to screen embryos for genetic errors, known as preimplantation genetic diagnosis, or PGD for short.

The technique was created for one primary reason – to allow couples with a family history of life-threatening genetic disease the opportunity to conceive a healthy child. By using in vitro fertilization to create embryos outside of the womb, in a petri dish, scientists can pluck a single cell from each of the developing embryos and test that cell’s DNA for errors. Some will carry the error, others not.  Those free of the defect can be implanted back into the mother and allowed to develop, hopefully, into a healthy baby.

An article in last week’s Wall Street Journal suggests that PGD will increasingly be used by parents who wish to tailor their soon-to-be child’s physical traits.  Sex.  Eye color.  Complexion. “Athletic ability.”

The idea that many of these traits can be “ordered up” is just bunk.  There is no genetic test for athletic ability or intelligence. Even eye and hair color, traits which we know are genetic, are complicated to predict.

The high cost of IVF and genetic testing – upwards of $20,000 -  will alone keep the number of “designer babies” low. One has to wonder, though, how many couples would take advantage of a cheap, easy way to choose the cosmetic traits or sex of their kids?  What if the cost were $200?

The $20,000 question: where does “reproductive freedom” end and a common moral standard begin?

The Food and Drug Administration recently approved the first drug to be biologically produced from genetically modified livestock. The drug antithrombin, a protein which helps prevent blood clotting, will be produced by goats that have been genetically modified with the human version of the gene.

Cleverly, researchers spliced the gene in a specific part of the goat genome so that the goats would only produce the protein in their milk. It’s relatively straightforward to isolate the protein drug from other milk proteins and package it for market.

Given that the “bio-pharming” approach has been discussed for decades, it will be interesting to see if the promises of cheaper and higher quality drugs come true.

However, some animal rights groups have expressed concern about the use of animals for drug production. Other groups are concerned about monitoring these transgenic animals, so that they do not enter the food supply.

Original Article

The New York Times recently featured a comprehensive and well-written article by noted Harvard psychologist Steven Pinker on the rise of consumer genomics. Pinker is a participant in the Personal Genome Project, an ambitious initiative to sequence the DNA of 100,000 volunteers for the purpose of better understanding how genes, health, and behavior are interrelated.

He also submitted a spit sample to 23andMe, a direct-to-consumer genetic testing company that promises information about not only disease risk, but also personal traits like food preference, athletic ability, and baldness. In Pinker’s case, the genetic test results were, well, flat-out wrong. Despite genetic predictions to the contrary, he likes coffee and beer, prefers hiking and cycling to squash, and has a full head of hair.

The article reinforces several important messages about our current understanding of the relationship between genes and health, personality, intelligence, and other complex traits. Most genetic tests provide only limited information about your odds of developing an illness, being bald, or preferring brussel sprouts over broccoli.  Both genes and our environment play a key role in shaping who we are. For a given illness or trait, there are likely hundreds, if not thousands of genes that, along with environment, make us who we are. Current research tools are not yet sophisticated enough to tease out many these relationships.

We will, no doubt, understand more about our genetic selves in the years to come; research initiatives like the Personal Genome Project and Northwestern’s NUgene project will hopefully shed new light on many genetic mysteries.  For the time being, as Pinker points out, if you want to know if you’re good at math, take a math test.  And the simplest genetic test is your family history.

Original Article