Like many other aspects of health care, the implementation of personal genetic medicine has run aground against the costs of producing an entire genome. Even now, a decade after the completion of the Human Genome Project, commercial whole genome sequencing can cost as much as $100,000. And at that price, the sequencing just isn't worth the benefits.
By Amber SassePosted 04.17.2009 at 4:06 pm 9 Comments
Turns out life has more essential building blocks to play with than previously thought: researchers at Rockefeller University have discovered a new nucleotide in the mammalian DNA code. Remember good ol' adenine, thymine, guanine and cytosine? Well, the alphabet of our DNA sequence is about to receive a new letter. Meet 5-hydroxymethylcytosine; we aren't sure what it does or where it's located, but we know it's important -- really important.
At-home personal genomics kits are available and affordable, but how relevant are the results?
By Devanshu Patel Posted 02.23.2009 at 1:08 pm 2 Comments
In Gattaca's opening scene, a doctor predicts, at the time of Ethan Hawke's character Vincent's birth, the likelihood that Vincent will suffer from a variety of diseases ("Manic depression: 42% probability…Heart disorder: 99% probability"), and determines his life expectancy to be 30.2 years.
While monthly flights to the moon and dating Uma Thurman remain science fiction (or science fantasy) for most, this type of genetic palm reading is now entering the realm of modern-day reality. You can get "sequenced" on the cheap, and at home, with personal genomics – retailed kits that provide users, after they've sent a saliva sample back to the company for analysis, with a range of personal genetic information.
But, as in Gattaca, where Vincent beats the odds of his genetic "fate," a question remains: How useful and predictive are the results of these personal genome tests? Some doctors say the results are not as relevant as one might think.
The femme fatale is a staple of film noir. With gams to Cleveland and moxie to match, they lure men in before pulling the old 23 skidoo and pitching woo with the next Joe at the speakeasy. However, a new study claims both the hourglass figure and the readiness to cheat on a man both result from the hormone Estradiol.
A curious shift occurs during and right after a war: more boys tend to be born than girls. It's been documented for decades in many nations, especially during long conflicts with many troops deployed. The cause of this boy boom has long flummoxed thinkers and scientists. Ideas have veered from the theological—a divine call for new men to replace those lost in battle—to the coital—returning soldiers have lots of sex, and so will be more likely to fertilize at a time in their ladies' cycle that's ripe for making boy babies.
Brainiacs now have something besides their intelligence to celebrate; their sperm. The intellectually endowed produce better quality and more mobile sperm, according to a study published in Intelligence and led by Rosalind Arden of the Institute of Psychiatry at King's College in England.
The future wasn't supposed to look like this. Here we are, one month from the very futuristic-sounding 2009, still waiting for robot armies to do our bidding, nuclear fusion to power our homes and a space elevator to zip us up through the atmosphere. Decades, even centuries ago scientists were promising that certain life changing technologies would be ready to go any day.
It might seem that the future is running a little behind schedule. But never fear! It is, indeed, only a matter of time.
So today, allow us to present to you eight technologies that were supposed to be up and running by now, but still haven't become part of daily life; along with info on when we can expect the technologies to actually arrive.
A few weeks ago, Hanna Rosin's wrenching and well-researched article about young transsexuals—including a girl named Bridget (née Brandon), whose first words were "I like your high heels"—zipped around the blogosphere. In it, Rosin discusses the unsettling work of a psychiatrist who questions the scientific basis for allowing children to "transition" to the gender of their choice, citing several kids who emerged from their gender dysphoria after a rigorous course of therapy. "If a 5-year-old black kid came into the clinic and said he wanted to be white, would we endorse that?" he asks. The prospect of letting pre-pubescent pipsqueaks take hormone-blockers that might have far-reaching effects on their health and future fertility is indeed a little nerve-wracking.
But just on the heels of Rosin's piece, researchers based at Australia's Prince Henry's Institute this month released the results of the largest ever study of transsexual genetics, which compared the length of the androgen receptor (AR) gene in 112 male-to-female transsexuals and a control group of 250 "normal" men.
Geneticists announced last week in the journal Nature that they have sequenced the complete set of DNA for three people—a Nigerian man, a Chinese man, and a Caucasian woman with leukemia—bringing the total number of individual genomes sequenced and published to five. (The first two are those of the genetics pioneers J. Craig Venter and James Watson.)
For decades, people referred to the non-coding bits of DNA between genes as junk DNA. Then, in the eighties scientists discovered that some of that junk DNA served an important purpose. The DNA attracted or repelled transcription factors and RNA, greatly enhancing or inhibiting the potency of adjacent genes. Now scientists have just found that one of those gene enhancers may be what separates humans and chimps.