Tag Archives: genetics

Entering the age of personal genomics

Richard Powers writes an elegant article in The Guardian on becoming one of the few people who have thus far had their entire genome sequenced. In his case by a company called Knome.

I can tell you that you have the ‘novelty seeking’ gene,” Conde says. He’s referring to a study that associates a longer version of the DRD4 gene on chromosome 11, involved in the brain’s dopamine system, with people who need higher levels of stimulation. “You have three genetic variants associated with aspects of intelligence,” he continues. Reassuring.

Just like that, I slip into the era of personal genomics. Now I know exactly what I’ve been dealt, and if I don’t take appropriate actions, the onus is on me.

But what actions? I enter my very own war on terror, monitoring lots of ambiguous chatter that is impossible to understand without more context, that I can respond to only indirectly, that I can’t defeat but can at best hold at bay – a standing low-grade condition of Orange alert that demands perpetual increased surveillance.

But beyond my list of health risks, I’ve also learned something extraordinary: 8% of my genetic material contains variations most closely related to the Yoruba population of Nigeria. I’ve become another person, someone else than I thought I was, giving blood in Wellesley, last spring.

As the genome sequencing gets cheaper I imagine it will become something we’ll all get done as a matter of course.

[image from mtowber on flickr]

Has evolution halted? Only TIME will tell

Have the comforts and supports of modern life ended the process of natural selection in humans? Steve Jones, genetics supremo at University College London believes so:

Before modernity, life was so tough that most children died before they reached adolescence. It was a race for survival and only the strongest made it, making out a case for natural selection. This means babies with genetic mutations that made them more resilient had better chances of survival as well as passing on their genes to their offspring.

Jones’ argument is that in a modern world of central heating and plenty of food, the same mutation is far less likely to give a child any advantage. A baby born today can expect to live a long and healthy life, which in turn works against the evolutionary tool of natural selection.

George Dvorsky opines that the theory that human beings have “stopped evolving” is incorrect because it discounts things like genetic drift, sexual selection, and of course, the self-guided evolution of transhumanists.

[image from kevindooley on flickr]

New research on aging hints we might be able to prevent it

800px-Adult_Caenorhabditis_elegans It appears the prevailing theory as to why we age could be wrong–and that would be good news for anti-aging research (Via PhysOrg):

Age may not be rust after all. Specific genetic instructions drive aging in worms, report researchers at the Stanford University School of Medicine. Their discovery contradicts the prevailing theory that aging is a buildup of tissue damage akin to rust, and implies science might eventually halt or even reverse the ravages of age.

The “rust” the prevailing theory uses to explain aging is essentially the accumulated wear and tear caused by “toxins, free-radical molecules, DNA-damaging radiation, disease and stress.” But the results of the Stanford research, led by Stuart Kim, professor of developmental biology and of genetics, don’t fit that theory. Instead, they found that that hundreds of age-related genes in C. elegans nematode worms were switched on and off by a single transcription factor–a kind of signalling molecule–called elt-3, which becomes more abundant with age. Two other transcription factors that regulate elt-3 also changed with age. As a result, normal development becomes unbalanced in older organisms, something the researchers call “developmental drift.” And now that this mechanism has been found in one organism, scientists can look for it in others–including humans.

The idea that this developmental drift is behind aging rather than “rust” would explain why there are many animals that live far longer than humans:

Some tortoises lay eggs at the age of 100…There are whales that live to be 200, and clams that make it past 400. Those species use the same building blocks for their DNA, proteins and fats as humans, mice and nematode worms. The chemistry of the wear-and-tear process, including damage from oxygen free-radicals, should be the same in all cells, which makes it hard to explain why species have dramatically different life spans.

***

If aging is not a cost of unavoidable chemistry but is instead driven by changes in regulatory genes, the aging process may not be inevitable. It is at least theoretically possible to slow down or stop developmental drift.

The research has been published in the July 24 issue of Cell; you can download the original paper in PDF format.

Having just celebrated another birthday and thus entered my 50th year on this planet, I can only say, “Faster, please!”

(Image: Wikimedia Commons.)

[tags]aging, biology, genetics, immortality[/tags]

Translating genetic information into music to diagnose disease

gene music Computers are very useful for analyzing large quantities of data, but presenting that data to humans in a useful form is an ongoing challenge. (A challenge that predates computers, actually: that’s why graphs were invented.)

Here’s an intriguing new way to examine data: turn it into music. Gil Alterovitz, a research fellow at Harvard Medical School, is developing a computer program that translates protein and gene expression into music: harmony represents good health, and discord indicates disease:

The first step in the gene-to-sound conversion was to pare down multiple measurements to a few fundamental signals, each of which could be represented by a different note. Together, the notes would form a harmonic chord in normal, healthy states and become increasingly out of tune as key physiological signs go awry, signaling disease.

He found, for example, that “when set to music, colon cancer sounds kind of eerie.” You can listen to some samples online. (Via KurzweilAI.net)

Alterovitz hopes the system could be tuned to identify other diseases, and might have applications outside medicine: it could be used to simplify information for air-traffic controllers or in other situations where large data sets have to be analyzed.

Not only that, a DJ in the Boston area is apparently interested in playing Alterovitz’s “music” in local bars.

Perhaps he could call it “Forever in Blue Genes.”

(Ouch, a Neil Diamond reference. I’m showing my age, aren’t I?)

(Image by Gil Alterovitz.)

[tags]genetics,medicine,music,computers[/tags]