Raquel Allen and her parents before the surgery

(See parts Two and Three)

Twenty years ago this November, the first living-donor liver transplant was performed at the University of Chicago Hospital, transferring a portion of the organ from Teresa Smith to her 9-month-old daughter, Alyssa. In October, the team of surgeons (led by Dr. Christopher Broelsch), pediatricians and ethicists who collaborated on that historic procedure will reunite for a conference, alongside Teresa and Alyssa Smith - now 20 years old and healthy.

Surgeons continue to perform living-donor liver transplants today, and though the procedure has become practically routine for some transplant surgeons, it remains an amazing feat of medicine that seems almost improbable: a piece of one person’s organ granting new life to another. This week, one such gift played out at the University of Chicago Medical Center, as 11-month-old Raquel Allen, diagnosed with biliary atresia (a congenital disease where the liver does not properly secrete bile), received a portion of a donor’s liver. Remarkably, donor Catherine Ortiz is not related to Raquel, but is a co-worker with Raquel’s mother at a Chicago pharmacy.

Raquel’s parents, Catherine and the surgeons were gracious enough to allow us to observe the procedure as it unfolded over 8 hours last week, and for the next few days we’ll be posting a video documentary of the event in three installments. Here’s the first, which contains interviews with Raquel’s parents, Melvin Allen and Coral Grinage, and Catherine Ortiz. Tomorrow, we’ll post footage from the surgeries, and later this week we’ll check in with Raquel and her family as she recovers in Comer Children’s Hospital.

Hormones: The New Economy Fall Guy

It might be just a coincidence, but as the market has reeled over the last few years there have been more and more scientific studies looking at one potential source of blame for dangerously risky financial behavior: our hormones. A study published in 2008 (that I wrote about with Joshua Boak in the Chicago Tribune) found that male financial traders with elevated levels of testosterone took more chances and performed better on a British trading floor. John Coates, one of the authors of that study, told me he was inspired to look at the influence of hormones on trading after observing unusual behavior from people in the financial world:

“I began to think that the people involved in this insanity were under the influence of some drug,” said Coates, who was a Wall Street trader. “When it was all over, they were like people in a hangover, they couldn’t believe they had bought some net company with no earnings, no interest plan, and lost all of their savings.”

An extension of that study recently took place not far from our home at the University of Chicago Medical Center, as 550 students from the University’s Booth School of Business were the subjects for an experiment on testosterone levels and career choice. That study, published in the Proceedings of the National Academy of Sciences this week, has stirred up a lot of media coverage, from the likes of The Economist and the Wall Street Journal. Authors from U. of C. and Northwestern found that testosterone does indeed correlate with risk-taking behavior - the higher your level of the hormone, the more risks you will take. The authors found no gender difference in this correlation; that is, women were just as susceptible to the effects of elevated testosterone levels on risk-taking as men. Testosterone levels also were found to influence career choice, as business students with higher testosterone levels and low risk-aversion tended to choose riskier careers in investment banking or trading.

Another fun fact from the article is that you can assess your prenatal testosterone exposure by measuring your fingers. Take the ratio between the length of your index finger and ring finger - the higher the ratio, the less testosterone you experienced in the womb. This ratio has been linked to everything from sexual preference to heart disease to athletic ability, and there is even a blog devoted to the latest finger-ratio news. Nothing surprises me any more on the internet.

Why Give Drugs When the Placebo Works Just As Well

An excellent and very long article in this month’s Wired by Steve Silberman looks at why the placebo effect in pharmaceutical trials has been increasing, and how that is bad, bad news for drug companies.

From 2001 to 2006, the percentage of new products cut from development after Phase II clinical trials, when drugs are first tested against placebo, rose by 20 percent. The failure rate in more extensive Phase III trials increased by 11 percent, mainly due to surprisingly poor showings against placebo. Despite historic levels of industry investment in R&D, the US Food and Drug Administration approved only 19 first-of-their-kind remedies in 2007—the fewest since 1983—and just 24 in 2008. Half of all drugs that fail in late-stage trials drop out of the pipeline due to their inability to beat sugar pills.

(Silberman also reveals a piece of industry jargon - “the futility boundary” - which should definitely be the name of an emo band.)

The placebo effect is a fascinating phenomenon that is both crucially important to how scientific experiments are conducted and, perhaps ironically, poorly understood by science. Silberman’s point that the placebo effect has been misappropriated as a mere obstacle for pharmaceutical approval rather than for its insight into our inherent biological healing processes is right on. But it’s also worth noting that the placebo effect can be put to nefarious uses as well. An amusing example of this is Obecalp, a sugar pill marketed to parents looking to basically trick their children out of minor illnesses. More disturbing is the rise of overseas stem-cell clinics promising cures for a whole slew of currently untreatable diseases, from spinal cord injuries to blindness. Many of these clinics offer patient testimonials about how the treatment worked for them; my suspicion (informed by the lack of scientific proof for these therapies) is that the patients’ improvement is pure placebo effect, obtained at very high cost.

But Silberman gives an encouraging description of the increasing amount of research, here and abroad, into what neurobiological processes create the placebo effect. Tapping into those processes more directly might actually lead to new, more effective drug treatments, potentially making the boring old sugar pill one of the most important drugs in modern medicine.

And Finally…

A study finds that drinkers are less depressed than those who abstain from drink, a “suicidal planet” is discovered, and (in a finding that hits close to home) habitual multi-taskers perform worse on attention and cognitive tests. Now for a nice weekend of writing e-mails while watching soccer while folding laundry while listening to music while talking to my wife.

(Note: This article was corrected on 12/9/09 - previously, it said that the nanoparticles were activated by UV light, but the TiO2 particles are actually modified to be activated using normal, visible light. Also, the light exposure time was only 5 minutes, not 6 hours as previously reported in the text.)

As reported everywhere today, Sen. Ted Kennedy died Tuesday night after a year-plus fight with malignant glioma, a type of brain cancer. The condition, in which tumor cells arise from glia cells of the brain, is known to be especially deadly and hard to treat - only about 16 percent of patients diagnosed with the condition survive five years. Treatment involves radiation, surgery and chemotherapy, but long-term survival is a challenge.

“In some cancers, the brain or pancreatic cells are multiplying at such a rapid rate,” said Dr. Maciej Lesniak, director of neurosurgical oncology at the University of Chicago Brain Tumor Center.  ”When you have a cancer that grows that rapidly, the prognosis can usually be measured in months or years at most. It’s always a battle between how quickly the cancer is growing and the available therapies.”

Those grim numbers have inspired many researchers to look at improved ways of treating brain tumors, employing some of the latest technologies available in biomedicine. One promising tool, currently being tested by Lesniak and scientists at Argonne National Laboratory, is the use of nanomaterials to target and kill tumor cells with minimal damage to nearby healthy tissue. A laboratory demonstration of this method was published last month in the journal Nano Letters.

“This paper overcomes a potential challenge in nanomedicine,” Lesniak said. “While nanotechnology is very interesting in terms of applications, targeting nanoparticles to specific parts of the body is a problem. They are so small, they can go anywhere.” read more

Have you heard of 3,4-Methylenedioxymethamphetamine? Maybe its acronym MDMA? Or perhaps its more common street name, ecstasy? Though it’s a drug that has been used recreationally for decades, long enough to be the inspiration for books and songs, ecstasy remains scientifically mysterious, with most of the research focusing on harmful long-term effects to users’ brains. Left unanswered is a key question about ecstasy: why do people take it?

Far less research has been devoted to ecstasy’s unusual effects, which include an increased sense of friendliness, empathy and sociability in users. MDMA is closely related chemically to the drugs methamphetamine and mescaline, but the psychological effects of those drugs are very different: hallucinogen and stimulant effects may be caused by ecstasy, but are not the primary desired effects people seek out by taking the drug.

Feelings of empathy and sociability are also difficult concepts to measure in animals, where most drug research is still performed for legal and ethical reasons. How do you determine whether MDMA makes a rat “friendlier” with other rats? One method, employed in a 2005 study, measured the likelihood of rats to lie next to each other, sort of a cuddle test. Sure enough, a dose of MDMA increased the likelihood that rats who had not previously met would lie next to each other.

But the human relevance of watching rats cuddle is, suffice to say, limited. So Gillinder Bedi, as a post-doctoral fellow in the laboratory of University of Chicago professor of psychiatry Harriet de Wit, designed experiments to test the effects of ecstasy on people’s subjective feelings and the way their brains process the emotions of other people. The first of two papers on the subject was published last week in the journal Psychopharmacology.

“There is only so much you can glean about social experiences from an animal,” Bedi said via e-mail from Australia. “I think it is a fascinating drug in terms of its effects on social behavior and function, in particular given that these social effects appear to be a fundamental part of the reinforcing effects of the drug. So, in this way ecstasy gives us a window into a broader issue, which is how drug effects and social factors interact at a more biological level, and whether such interactions are an important part of why people use drugs.” read more

Women's 800m champion Caster Semenya

Track Meet Becomes Scientific Conference

The World Track & Field Championships being held this week in Berlin has been in the headlines a lot in the United States, which is unusual for a non-Olympics year. But there’s been a mix of the awesome and the odd from the meet which has generated a slew of fascinating science discussion. And believe it or not, it hasn’t had anything to do with doping.

First, the amazing: Jamaican sprinter Usain Bolt, who didn’t just set new records in the 100m and 200m races, he annihilated them. Bolt’s 100-meter time of 9.58 and 200-meter time of 19.19 shaved 0.11 seconds off his world records for both events, and the media has gone crazy. There’s a great graphic of how he broke the record here, more graphs and analysis than you could ever ask for here, and a clever video illustrating just how short 9.58 seconds really is, through the medium of the Beatles, here. One interesting article from the Guardian explains how Bolt’s performance was so extraordinary, it forces scientists to recalculate the limits of how fast humans can run.

The story of Caster Semenya is much trickier. The South African Semenya won the women’s 800-meter race on Wednesday under a cloud of suspicion that makes doping look like a mere annoyance: allegations that she’s not actually a woman. It turns out this is not an easy question to settle, as conditions like Klinefelter syndrome (born with XXY chromosomes) and androgen insensitivity syndrome (born XY, but unresponsive to testosterone) produce people whose genes and sexual characteristics do not match. The International Association of Athletics Federations, the governing body of track & field, has reportedly begun “a series of tests” to determine whether Semenya is “entirely female.” How that is defined is unclear, but there’s precedent: in 2006, Indian runner Santhi Soundarajan was stripped of an 800-meter silver medal after failing a sex test.

The excellent sports medicine blog The Science of Sport, coincidentally run by two South African doctors, has been all over this story, and even the comments to posts like this one are worth reading if you’re interested in this unusual case.

H1N1 Flu Vaccine Recommendations Questioned As Flu Season Approaches

Last month, we discussed the recommendations of the federal Advisory Committee on Immunization Practices (ACIP) on who should receive vaccination for the H1N1 “swine flu” virus this coming fall. As the ACIP reports directly to the Centers for Disease Control and Prevention, those guidelines - which said that pregnant women, caregivers for infants, health care workers, people under 24 and people with chronic medical conditions should be first in line - were likely to be followed by the medical community. And because there won’t be enough H1N1 flu vaccine to give to everybody at the start of flu season (the CDC’s Jay Butler estimated today that between 45 and 52 million doses will be initially available in mid-October), those priorities will be necessary.

But a report published online by the journal Science yesterday says that the ACIP may not have settled on the best strategy for preventing the spread of the novel flu virus this fall. Jan Medlock and Alison Galvani, epidemiologists from Clemson and Yale, ran computer models suggesting that targeting the limited supply of vaccines at school-age children - the demographic most likely to spread the virus - and their parents would likely minimize the total number of infections and deaths from the flu, as well as lowering the public health costs. Even though children may not be the population most at risk for severe flu symptoms with this virus (or seasonal influenzas, which they also studied), more vulnerable populations can be indirectly protected by targeting the children first before the virus spreads rapidly through classrooms, the authors said.

“Instead of vaccinating them directly, you can protect them better by vaccinating the children, stopping the transmission in schools and from schoolchildren to their parents,” Medlock said in a podcast interview on the Science website.

The difference highlights an interesting question: when you’re deciding who to vaccinate first, what goal are you aiming for? The ACIP recommendations were largely intended to give vaccine first to the groups that are most at risk of severe symptoms and death after viral infection - pregnant women, for example. Medlock and Galvani’s models tested several different goals, including minimizing death, minimizing infection and minimizing the economic cost of the disease’s spread. A cold computer might think it’s easiest to vaccinate schoolchildren and minimize infection across the general population at the risk of more pregnant women dying, but public health officials and scientists, for the most part, are not computers.

And Finally…

Science writer Carl Zimmer writes a perfectly-headlined summary of glia, the brain’s secret weapon. In Germany, a “hotel” for studying genetically modified mice is overbooked. And in a week where NASA announced the discovery of the amino acid glycine in a comet’s tail, here’s a nice overview of astrobiology, the search for life on other planets.

First of all: OUCH.

The rather painful X-ray to the left was taken from a 48-year-old patient who, it should be said immediately, survived his unfortunate encounter with a nail-gun and its 6-inch long projectile. But it’s what happened after the nail’s removal that merited the publication of this photograph in the medical journal The Lancet last month by University of Chicago doctors Babak Mokhlesi and Mohsin Khan.

Some time after the patient’s recovery from this very severe brain injury, he presented to the University of Chicago Sleep Disorders Center with hypersomnolence - sleeping, on average, 20 hours each day. The man’s sleep patterns were also unusual; he fell from the awake state into sleep faster, achieved REM sleep more rapidly than normal and woke up frequently during a 7-hour polysomnogram, or sleep test. Doctors were able to treat the man’s narcolepsy with methylphenidate (commonly known as Ritalin) and modafinil, two stimulants commonly prescribed to treat the disorder.

According to the article, the man’s hypersomnolence improved under medication. There was also a secondary side-effect of the gruesome injury - the man’s obsessive compulsive disorder “completely resolved.” read more

The committee members who make up the shortlist for the  Nobel Prize in Physiology or Medicine each year might want to start listing an unlikely trio of medical researchers: The Brothers Gibb, otherwise known as The Bee Gees.

Last fall, David Matlock, a medical resident with the University of Illinois School of Medicine presented a study at the American College of Emergency Physicians meeting that found listening to the Bee Gees’ “Stayin’ Alive” during a CPR refresher course helped doctors and medical students perform the lifesaving method accurately. Retesting the same subjects five weeks later, with the subjects instructed to replay the song in their heads, the doctors and students continued to show excellent CPR technique. Though Matlock’s proof appeared to be the first scientific study of Bee Gee-related emergency medicine, inside medical sources (i.e. my wife), say that the song has been an instructional CPR tool for some time. [Conveniently, the song is also a health threat in its own right. - ed.]

Since it’s already stuck in your head by now…

The song’s medical benefits had little to do with the soothing sound of falsetto harmonies or fond memories of John Travolta, but rather with the pace: “Stayin’ Alive” struts along at 103 beats per minute, very near the 100 compressions per minute recommended for CPR. As such, any 100bpm song would do, but the uplifting message of the Bee Gees chorus makes for an irresistible and memorable lesson.

That tempo was harnessed for the powers of health again recently, this time as a guide for  aerobic activity. Earlier this week, the website of the Department of Health and Human Services spotlighted a May paper in the American Journal of Preventive Medicine that found “Stayin’ Alive” sets the internal metronome for a healthy walking pace. Researcher Simon Marshall of San Diego State University determined that 100 steps per minute was the ideal rate for “moderate intensity walking,” which public health guidelines recommend adults do for at least 150 minutes each week. Therefore, humming the tune and making like Travolta is a low-budget solution for those unwilling to purchase a pedometer to track their feet.

“The tempo of it is such that – as with most disco music from the ‘70s – the beat is fairly consistent throughout the whole song, and most people find it hard to sit still to,” the pro-disco Marshall told HHS.

Of course, an anti-disco attitude can also help you burn off some calories, but may result in legal charges. If you’re planning on performing CPR or walking at a moderate intensity pace and can’t stand the Bee Gees (or just prefer “Night Fever”), here’s a list of songs that are exactly 100 beats per minute, so you’ll be even more accurate. Perhaps Ricky Martin’s “Shake Your Bon-Bon” suits you better? I won’t judge.

Three years ago, University of Chicago Medical Center physicians spotted an unusual genetic mutation in 6-year-old Lilly Jaffe - a finding that meant the girl could switch from painful insulin injections to pills as a means of controlling her Type I diabetes. Last Friday, Illinois Governor Pat Quinn signed a state bill bearing Lilly’s name, which will establish the first mandated statewide diabetes registry in the United States, an effort that researchers hope will help more diabetic children receive the proper treatment for their disease and help decode previously-unknown genetic causes of diabetes.

Illinois House Bill 2481, known unofficially as Lilly’s Law, originated with Rep. Tom Cross (R-Oswego) and passed both houses of the Illinois General Assembly by unanimous vote — no small achievement in the state’s current political climate. The bill establishes a registry of Illinois children diagnosed with neonatal diabetes before the age of 12 months, to be used by clinicians and diabetes researchers. Physicians will now be required to report any such cases to the Illinois Department of Public Health and, if the family agrees, will also report results of lab tests that measure blood sugar control in the diabetic children.

Dr. Louis Philipson, medical director of the Kovler Diabetes Center at the University of Chicago, helped Cross craft the bill along with U. of C. professor of medicine and human genetics Graeme Bell, and Dr. Siri Atma Greeley, instructor in pediatric endocrinology. Philipson said the registry will be beneficial in both the clinic and the laboratory, helping doctors connect children with the most appropriate and least disruptive treatments, while also pointing scientists toward potential new genes that underlie neonatal diabetes.

“There’s a double benefit here,” said Dr. Louis Philipson, medical director of the Kovler Diabetes Center at the University of Chicago. “It will not only help patients, but we can also learn more about the various genes that cause diabetes.” read more

Hockey players conducting hands-on research

If you had to pick a group of researchers who would be interested in hockey, you’d probably first think of dentists, not psychologists. Certainly you wouldn’t consider hockey players an ideal subject pool for mapping the brain’s language pathways, unless you were uniquely interested in the comprehension of French-Canadian slurs.

But hockey players and their brains were perfectly suited for the lab of Sian Beilock, a University of Chicago psychologist looking to study whether experts in an action-based field - such as one involving pucks, sticks and skates - process language differently than those with little experience in the field. Professional and college hockey players, as well as hockey fans and hockey novices, sat in MRI machines while they heard sentences about hockey (“The hockey player knocked down the net.”) or more mundane topics (“The individual closed the book.”). The resulting images revealed that people who play hockey for a living exhibit a unique pattern of brain activation when they hear sentences about their sport, suggesting that experience can shape the way humans comprehend language at its most basic level.

It may not be surprising that people who spend dozens of hours a week practicing slap-shots and fore-checking have a deeper understanding of their sport’s terminology than someone who thinks a hat trick is a Charlie Chaplin bit. But Beilock, an associate professor of psychology at U. of C., said nobody previously had viewed modulation of language pathways as a function of an individual’s motor expertise. In fact, psychologists long considered language and one’s ability to shoot a puck to be unrelated processes in the brain, never sharing information.

“People used to often talk about language as being a very specific cognitive activity in a very specific part of the brain,” Beilock said. “What we’re showing is that people with experience in acting out things they might read, hear or talk about seem to call upon not just traditional language areas when hearing information, but seem to call upon areas involved with acting out things the language depicts.”

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Our weekly roundup of interesting science from around the web:

"All the physicists in the house say yeah-yuh!" (courtesy Fermilab)

Where the Higgs At? A Particle Accelerator Rap Battle

CERN’s gigantic new Large Hadron Collider had a somewhat tough week, with New York Times reporter James Glantz comparing the $4 billion particle accelerator to an unfinished Mayan pyramid, “another grandiose structure with cosmic aspirations and earthbound problems that could thwart its ambitions.” Then, stateside particle accelerator owners Fermilab went and commissioned a rap response to the famously viral “Large Hadron Rap” performed by CERN employee Katherine McAlpine. Penned by science “rapbassador” Funky49, the Fermilab rap is not available for listening yet (Funky49 was in Batavia, IL recording the video this week, the Fermilab website reported), but you can use your imagination with the help of the lyrics. CERN and Fermilab hold fast to their status as friendly rivals (much to the annoyance of conflict-seeking science writers around the world), so Funky49’s rebuttal is hardly the particle physics version of Jay-Z laying the verbal smackdown on Nas.

A Gene for Morning People

Many people who wish there were more hours in the day to get things done forget that almost a third of one’s time (if you’re lucky) is spent sleeping. But a select few lucky souls with a rare genetic mutation don’t need a full 8 hours to feel rested, a study published in Science this week revealed. When Univeristy of California-San Francisco researchers looked through their menagerie of people with odd sleeping habits, they stumbled upon a mother and daughter who require only 6 hours of sleep a night to wake up refreshed and shared a mutation in a gene called DEC2. When that mutation was replicated in mice and fruit-flies, those animals stayed awake for longer relative to compatriots with unchanged genes. Those extra couple of hours of wakefulness could be the slim difference between normalcy and greatness, according to one British article, which speculates that luminaries like Napoleon Bonaparte and Winston Churchill may have sported such a genetic advantage. Never has being called a “mutant” been such a compliment.

Psychoanalyzing the World with the Web

With the vast amount of data being thrown around the globe through the Internet every second of every day, it was only a matter of time before tech-savvy scientists began finding ways to harness that information for their own research. Last year, Google Flu Trends launched as a unique way of monitoring public health, pinpointing potential outbreaks based on surges in people searching for flu-like symptoms (never mind that it didn’t work so well during the spring H1N1 outbreak). Now, a team from the University of Vermont is looking to take the temperature of the nation’s mood by monitoring song lyrics, blogs and Twitter messages. The good news is that blogger happiness has increased since 2005, according to one graphic from the researchers’ upcoming paper in, yes, The Journal of Happiness Studies. That measuring method, which they’re calling a hedonimeter, will be publicly available soon at their website.

(now seems a good time to plug that the ScienceLife Twitter account has gone live; follow @ScienceLife)

Finally…

Math vs. Zombies, how oxytocin might improve your social life, and why Les Paul was probably the greatest musician-scientist of the 20th century.

The Heliscope Single Molecule Sequencer

An idea that may be close to jumping from the world of science fiction to your local hospital is the concept of full, individualized genome scans - a personal genetic profile that could, at least in theory, help a doctor assess your risk for certain diseases and prescribe more effective treatment. That’s the prize a number of biotechnology engineers are currently chasing, producing a scientific race to invent quick, cheap and accurate sequencing machines that could open up a new world of genetic research and medicine. An important step was announced in that race this week, as a group based out of Stanford University detailed the sequencing of the 8th full human genome using a new machine with the delightfully sci-fi name of the Heliscope Single Molecule Sequencer.

The ultimate goal, laid out by the Genomics X Prize , is to invent a method that can sequence 100 human genomes in 10 days, at an average cost of no more than $10,000 per genome. The HSMS scan of Stephen R. Quake, one if the machine’s inventors, published in Nature Biotechnology this week, is said to have taken about two weeks and cost roughly $50,000 - still far from the X Prize standard. But by contrast, the sequencing of James Watson’s DNA in 2007 took 2 months and cost $2 million.

Kevin White, a professor of human genetics at the University of Chicago, said by e-mail that the HSMS demonstration was a “ a powerful demonstration of what can be done with the current technologies,” but points out that the Helicos sequencer is one of several machines, each with their own innovation that speeds up sequencing, to have hit the market recently. It’s also not a new effort: first proposed in a 2003 paper, the refrigerator-sized machine (which costs about $1 million) was used to sequence a viral genome last year.

However, White notes that even these new technologies are limited by the enzymes they use to indirectly deduce the ingredients of the DNA molecule. For the technology to truly achieve the speed and affordability necessary to be a clinical game-changer, White said, they must be capable of directly “reading” the base-pair language of DNA. 

“This ‘ultimate’ machine is what many of us are looking forward to, but in the meantime the current batch of next generation sequencers is enabling a vast array of new research to be performed by individuals or small teams of researchers who otherwise would not have access to genome sequencing,” White wrote. “Because of this, more focused and often more interesting questions are being asked than the days when genome sequencing was dominated by just a few centers. ”

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University of Chicago molecular geneticist Janet Rowley received her Presidential Medal of Freedom Wednesday along with 15 other honorees, including Stephen Hawking and Sen. Edward Kennedy. Here’s video of the ceremony, courtesy of C-SPAN…President Obama’s warm introduction is at 15:50, and he presents Dr. Rowley with the medal at 35:00:

Here is President Obama’s introduction:

“After graduating from the University of Chicago School of Medicine in 1948, Janet Rowley got married and gave birth to four sons, making medicine a hobby and making family a priority. It was not until she was almost 40 that she took up serious medical research, and not until almost a decade later that she discovered, hunched over her dining room table examining small photos of chromosomes, that leukemia cells are notable for changes in their genetics — a discovery that showed cancer is genetic and transformed how we fight the disease. All of us have been touched in some way by cancer, including my family, so we can all be thankful that what began as a hobby became a life’s work for Janet.”

Two Chicago TV stations have also done profiles of Dr. Rowley since the Presidential Medal honor was announced, which you can watch online:

WTTW, Ch. 11

ABC-7 Chicago

The development of the human brain is a massive biological construction project that scientists are still only beginning to understand. From the first few cells of the human embryo, billions of neurons and glia cells must be formed and positioned in exactly the right place with all of the proper connections. Hundreds of genes, chemical signals and growth factors have been found to be foremen and tradesmen on this neurological construction site, and if any one of those workers doesn’t show up for work or does their job incorrectly, the consequences can range from severe mental retardation to prenatal death.

That incredible feat of engineering is the backdrop for a new paper published online Sunday in Nature Genetics by a team of scientists and clinicians led by Kathleen Millen, assistant professor human genetics at the University of Chicago, and William Dobyns, a professor of human genetics, neurology and pediatrics at the University of Chicago Medical Center. For the last 8 years, Millen and Dobyns have been looking at a case where the brain’s construction goes awry: a common birth defect of the brain called Dandy-Walker malformation (DWM). In 2004, they found the first two genes that contribute to some children born with DWM, which can lead to motor delays, mental retardation, hydrocephalus and autism. In their new paper, a third gene is implicated in the development of DWM – and it was not one that the authors expected to find.

The researchers found that people with a missing or defective version of a gene called FOXC1 exhibited the characteristic deformity of Dandy-Walker: an improperly formed cerebellum, the region at the back of the brain that controls coordination, balance and other motor processes. But FOXC1 is not a likely culprit for a brain disorder, as it’s never actually expressed in the brain. Instead, it shows up in embryonic tissue called mesenchyme, which later develops into the skull and membranes that wrap around the brain.

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To hold you over for the weekend, here’s a brief roundup of some interesting science stories around the web this week:

How Victor Yushchenko’s Skin Saved Him from Poisoning

In 2004, Victor Yushchenko was running for president of Ukraine against an opponent hand-picked by the previous ruling regime, when he became suddenly and mysteriously ill. Saved by emergency medical attention, it was subsequently found that he had been suffering from poisoning with dioxin, one of the active ingredients in the infamous “Agent Orange.” Yushchenko, who was later elected president and is still in office, survived the rare poisoning but was left with odd facial scarring that doctors could not fully explain.

This week, Yushchenko’s doctors put forward a theory about the scarring that is fascinatingly bizarre: the facial growths were a defense mechanism of his body that helped isolate dioxin away from important organs as the body tried to remove the poison. Yushchenko’s case is so rare – only one other case has been reported on a person poisoned with pure dioxin – it has extended beyond political news into the realm of medical case study. One paper, published in British medical journal The Lancet this week, suggests that the reason these cases are so rare is that the unfortunate recipient of dioxin dies so quickly: “whether forensic investigators would have detected the poison in Victor Yushchenko had he died soon after the intoxication is unknown,” the authors report.

Unmentioned in this study, but appearing in a news report by New Scientist magazine, is the fact that Yushchenko’s strange facial growths may have helped save the Ukranian president’s life. Jean Saurat, a Swiss dermatologist who helped treat Yushchenko, told the magazine that the growths on his face and body sequestered the poison and produced an enzyme, normally expressed in the liver, to metabolize dioxin.

“A new organ was created out of normal structures of the skin, and the tissue expressed very high levels of dioxin-metabolizing enzymes,” Saurat told New Scientist.

Francis Collins Confirmed as NIH Director

As covered previously in this space, some online controversy has gathered around the nomination of Francis Collins, former director of the Human Genome Project, as the new director of the National Institutes of Health, arguably one of the most powerful scientific positions in the world. After opposition was ignited again last week by atheist writer Sam Harris’ Op-Ed in the New York Times, Collins was nevertheless approved as NIH director late Friday afternoon by a unanimous Senate vote without facing a confirmation hearing.

The inconvenient timing of the news means that prominent online Collins critics, such as University of Chicago’s Jerry Coyne and PZ Myers of the University of Minnesota, Morris, have yet to post a response as of press time, but watch their blogs this weekend.

(Myers spent his Friday touring the Creation Museum in Petersburg, Kentucky - home of displays portraying humans and dinosaurs peacefully co-existing - with a group of more than 200 atheists. Sift through Twitter comments here for highlights including Myers riding a saddled triceratops.)

Rooks Use Tools to Capture Floating Worm

On a visit to the Lincoln Park Zoo last month, I was delighted to watch one of the chimpanzee fishing for bugs with a piece of straw, a favorite clip of nature shows illustrating chimps’ human-like ability to use tools. Thanks to Wired Science, I learned this week that birds have their own tricks to enlist their natural surroundings in the attainment of a snack. Check out the video below, where Connelly the rook uses the principle of water displacement to reach a tasty worm.

How the Injured are Treated at Music Festivals

This weekend brings the annual Lollapalooza festival to Chicago, just in time for the first really, really hot weekend of weather to hit the city - temperatures are supposed to hit the mid-90s. Though I’m not attending Lollapalooza this year (already saw all the bands I wanted to see at Bonnaroo), the event reminds me of one of my favorite Tribune articles, a peek at what goes on inside the medical tents of music festivals. My favorite factoid: the type of  concert with the most medical-tent visits are Christian rock shows. “All these patients who would normally have albuterol inhalers for asthma or different medications would leave all their stuff at home,” Dr. Jeff Grange, a professor of emergency medicine at Loma Linda University told me. “Then they would come into the first-aid tent saying, ‘I thought I would be healed, so if I took my stuff it’d be like I didn’t have faith.’”

Decades of research advances have made depression less mysterious and less stigmatized in most circles, accepted as a neurobiological disorder rather than a more abstract (and untreatable) entity. But some news about depression remains surprising, at least to people outside the realm of psychiatry. Tuesday’s newspaper had one such example: a new study out of Washington University in St. Louis following a group of clinically depressed and young – very young – children, between the ages of 3 and 6.

Diagnosing a preschool child with major depressive disorder was a new concept to me. But it turns out that it’s relatively old news to psychiatrists, who have been studying the diagnosis and treatment of early childhood depression cases since at least the mid-1980’s. Prior to that, even practitioners  had trouble grappling with the idea of toddlers and kindergartners suffering from a traditionally “adult” disorder like depression, said Sharon Hirsch, section chief for child and adolescent psychiatry in the Department of Psychiatry and Behavioral Neuroscience at the University of Chicago Medical Center.

“People used to have a different concept about kids,” Hirsch said. “They figured, from a developmental point of view, that if you didn’t understand abstract concepts – if you only knew right and wrong, black and white – you didn’t have to worry about the larger concepts in life. Therefore, you weren’t really capable of becoming depressed, because you were only focused on food and basic necessities, which are all provided for you, so what is there to get depressed about?”

But as theories of depression focused less on psychoanalysis and more on neurochemical causes, researchers began asking whether the brains of very young children might be vulnerable to mood disorders such as depression. They found that depression does strike kids, but it takes distinct physical and emotional forms.

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