For more than 60 years, Robert Martensen’s lung cells replicated without a hitch, regulated by specialized enzymes called kinases. Much like thermostats that adjust the temperature in a room to make sure it’s not too hot or too cold, kinases make sure that the right number of new cells are created as old ones die. But sometime in his early sixties, something changed inside Martensen. One or more of the genes coding for his kinases mutated, causing his lung cells to begin replicating out of control.

At first the clusters of rogue cells were so small that Martensen had no idea they existed. Nor was anyone looking for them inside the lean, ruddy-faced physician, who exercised most days and was an energetic presence as the chief historian at the National Institutes of Health. Then came a day in February 2011 when Martensen noticed a telltale node in his neck while taking a shower. “I felt no pain,” he recalls, “but I knew what it was. I told myself in the shower that this was cancer—and that from that moment on, my life would be different.”

Martensen initially thought it was lymphoma, cancer of the lymph glands, which has a higher survival rate than many other cancers. But after a biopsy, he was stunned to discover he had late-stage lung cancer, a disease that kills 85 percent of patients within a year. Most survive just a few months. […]

He heard about a new drug being tested at Massachusetts General Hospital in Boston. Developed by pharmaceutical giant Pfizer, the drug had dramatically reduced lung cancer tumors and prolonged life in the couple hundred patients who had so far used it, with few side effects. But there was a catch. The new med, called Xalkori, worked for only 3 to 5 percent of all lung cancer patients.

{ Discover | Continue reading }

photo { Patrick Romero }

The U.S. government is surreptitiously collecting the DNA of world leaders, and is reportedly protecting that of Barack Obama. Decoded, these genetic blueprints could provide compromising information. In the not-too-distant future, they may provide something more as well—the basis for the creation of personalized bioweapons that could take down a president and leave no trace.

{ Atlantic | Continue reading }

We also inherit — through genes yet to be identified, of course — a trait known as developmental stability. This is essentially the accuracy with which the genetic blueprint is built. Developmental stability keeps the project on track. It reveals itself most obviously in physical symmetry. The two sides of our bodies and brains are constructed separately but from the same 23,000-gene blueprint. If you have high developmental stability, you’ll turn out highly symmetrical. Your feet will be the same shoe size, and the two sides of your face will be identical.

If you’re less developmentally stable, you’ll have feet up to a half-size different and a face that’s like two faces fused together.

{ NY Times | Continue reading }

photo { Jo Longhurst }

Technically, physical pain could be banished in humans and nonhumans alike. […]

From an engineering perspective, pain is unnecessary.

{ David Pearce/io9 | Continue reading }

images { 1. Richard Kalvar | 2. Ellsworth Kelly, Black and White, 1961 }

For a small group of people—perhaps just 1% to 3% of the population—sleep is a waste of time.

Natural “short sleepers,” as they’re officially known, are night owls and early birds simultaneously. They typically turn in well after midnight, then get up just a few hours later and barrel through the day without needing to take naps or load up on caffeine.

They are also energetic, outgoing, optimistic and ambitious, according to the few researchers who have studied them. The pattern sometimes starts in childhood and often runs in families. […]

Out of every 100 people who believe they only need five or six hours of sleep a night, only about five people really do, Dr. Buysse says. The rest end up chronically sleep deprived, part of the one-third of U.S. adults who get less than the recommended seven hours of sleep per night. […]

Dr. Fu was part of a research team that discovered a gene variation, hDEC2, in a pair of short sleepers in 2009. They were studying extreme early birds when they noticed that two of their subjects, a mother and daughter, got up naturally about 4 a.m. but also went to bed past midnight.

Genetic analyses spotted one gene variation common to them both. The scientists were able to replicate the gene variation in a strain of mice and found that the mice needed less sleep than usual, too.

{ WSJ | Continue reading }

photo { Diane Arbus }

Researchers at the Fred Hutchinson Cancer Research Center have found traces of male DNA in women’s brains, which seems to come from cells from a baby boy crossing the blood-brain barrier during pregnancy. This is known as microchimerism, and according to the researchers, this is the first description of male microchimerism in the female human brain.

{ Genome Engineering. | Continue reading }

Detectives tracking murderers, rapists and other criminals may be able to reconstruct their faces from a speck of blood left at the crime scene.

The significant advance in forensic investigation has been brought a step closer by scientists who believe they can produce portraits of suspects from a scrap of their DNA. The development would mean inaccurate photofits and unreliable eyewitness testimony would be consigned to history.

Researchers in the Netherlands working with photographs of individuals and MRI scans of their heads have identified genetic factors that contribute to facial appearance. […] The researchers from the Erasmus University Medical Centre in Rotterdam identified nine facial “landmarks”, including the position of the cheekbones, the distance between the eyes, and the height, width and length of the nose. By analysing the genomes of almost 10,000 individuals, they found five genes that controlled the positioning of the nine landmarks which affected their facial appearance.

{ Independent | Continue reading }

related { ‘Psychopaths’ have an impaired sense of smell }

photo { Richard Barnes, Unabomber 01, 1998 }

{ Study finds gene that predicts happiness in women }

The human genome is estimated to contain about 23 000 genes. Where do these genes come from? Well, from your parents. And their parents. And so on. But, surely, if we go back far enough, there haven’t been 23 000 genes all along? However life originated, the first DNA carrying organisms probably had significantly fewer genes. So, where did all these new genes come from? How are genes born?

Well, there are two main ways:

• Re-organization of existing genes. […]

• All new. In other words, not based on previously present genes. This is what the new study investigates.

{ The Beast, the Bard and the Bot | Continue reading }

related { The genetics of stupidity }

photo { Paolo Ventura }

Delaying fatherhood may offer survival advantages, say US scientists who have found children with older fathers and grandfathers appear to be “genetically programmed” to live longer. […]

Experts have known for some time that lifespan is linked to the length of structures known as telomeres that sit at the end of the chromosomes that house our genetic code, DNA. Generally, a shorter telomere length means a shorter life expectancy.

{ BBC | Continue reading }

Scientists have now accurately predicted almost the whole genome of an unborn child by sequencing DNA from the mother’s blood and DNA from the father’s saliva.

{ Science | Continue reading }

artwork { Ellsworth Kelly, Red White, 1961 }

A good memory is typically seen as a powerful advantage, an aid to intelligence and socializing. But when experience is traumatic, this asset may become a serious liability, according to new research on survivors of the Rwandan genocide.

Researchers at the University of Basel in Switzerland studied a gene for a protein called PKCA, which is known to be involved in the encoding of emotional memories. […]

According to the study, the findings point to a “genetic link between the predisposition to build strong memory and the risk for post-traumatic stress disorder.”

The research also adds to increasing evidence that many “positive” genes also have a downside — and similarly, many “negative” ones have an upside. For example, one gene linked with a tendency for children to share treats with others is also linked to ADHD and later in life, promiscuity and addiction.

{ Time | Continue reading }

photo { Juergen Teller }

{ Because identical twins develop from a single zygote, they have the same genome. This removes genetics as a variable telling scientists that the differences they observe between the individuals are caused almost solely by environmental factors. Recent studies have shown that many of these environmentally induced differences are acquired via the epigenome. | The University of Utah | full story | Thanks to Patrick/xcorr.net }

The settings for a person’s biological clock might provide clues to when, during the day, he or she will be more active. What’s more, these same settings could be linked to what time of day a person might die, a new study finds.

Understanding the biological basis of these built-in, or circadian, clocks “could lead to products that eventually allow us to shift the clock forwards or backwards,” says Philip De Jager, a neurologist with Harvard Medical School in Boston. He and his colleagues describe their work online April 26 in Annals of Neurology.

Being able to alter these clocks could prove useful for shift workers, such as pilots, who might face trouble working against their intrinsic daily rhythms, De Jager adds. And patients can be better cared for if doctors know what times of day are most critical.

Previously, scientists have shown that many genes are involved in regulating people’s inherent daily wake and sleep patterns. Disruptions to this natural circadian rhythm are often linked to serious health conditions, including diabetes.

{ ScienceNews | Continue reading }

photo { Sean and Seng }

The ‘body clock’ or circadian rhythms controls things like alertness, sleep patterns, appetite and hormones, and travelling across time zones or working nights can disturb it. […]

The researchers found that two nuclear receptors (receptors that sense hormones), called REV-ERB-α and REV-ERB-β, control the circadian expression of core circadian clock and lipid homeostatic gene networks. Not getting enough sleep puts you at increased risk of obesity, diabetes and related metabolic disorders.

{ Genome Engineering | Continue reading }

{ Why identical twins differ—despite having the same DNA }

images { Walt Disney with elephant at the American Museum of Natural History }

When it comes to diagnosing depression in teens, differentiating mental illness from normal mood swings can be difficult. But it can be a crucial diagnosis, given that untreated depression in youth makes them more vulnerable to later substance abuse, social maladjustment, physical illness and suicide.

“Depression in adolescents affects basically every component of their thinking and makes everything very difficult psychologically and socially,” says Eva Redei, a professor of psychiatry and behavioral sciences at Northwestern University Feinberg School of Medicine.

Currently, a depression diagnosis in teens relies on their descriptions of symptoms and their physician’s subjective observations. But now a new study suggests there may be a surer, more objective way: a blood test that identifies major depression by looking for a specific set of genetic markers in the blood.

{ Time | Continue reading }

photo { Pina Bausch, Blaubart, 1977 | performance still }

A massive genetics study relying on fMRI brain scans and DNA samples from over 20,000 people has revealed what is claimed as the biggest effect yet of a single gene on intelligence – although the effect is small.

There is little dispute that genetics accounts for a large amount of the variation in people’s intelligence, but studies have consistently failed to find any single genes that have a substantial impact. Instead, researchers typically find that hundreds of genes contribute.

Following a brain study on an unprecedented scale, an international collaboration has now managed to tease out a single gene that does have a measurable effect on intelligence. But the effect – although measurable – is small: the gene alters IQ by just 1.29 points.

{ NewScientist | Continue reading }

related { Niceness is at least partly in the genes }

Scientists are increasingly finding that depression and other psychological disorders can be as much diseases of the body as of the mind. (…)

Scientists are finding that the same changes to chromosomes that happen as people age can also be found in people experiencing major stress and depression.

The phenomenon, known as “accelerated aging,” is beginning to reshape the field’s understanding of stress and depression not merely as psychological conditions but as body-wide illnesses in which mood may be just the most obvious symptom.

{ WSJ | Continue reading }

Pseudogenes are genes that used to have a function, but no longer do. If a gene contributes to an important function for the organism, offspring with deleterious mutations that ruin the gene will have lower fitness, and as a result won’t have as many offspring, if any at all. That mutated gene will likely not go to fixation (become prominent in the population). On the other hand, if the gene used to have a function, but no longer do, then mutations affecting the gene won’t be deleterious. (…)

Examples where pseudogenization is coupled to function is rare. A new study published in PNAS links genes that code for taste receptors to specific dietary changes in carnivorous mammals. Basically, animals that do not eat sweets don’t have receptors for sweetness (e.g., cats), and animals that swallows their food whole have no receptors for umami (e.g., sea lions, dolphins).

{ Pleiotropy | Continue reading }

artwork { Darick Maasen }