That night marked the first time that two unrelated NGLY1 children were in the same room at the same time. For several hours, over ahi sliders, fish tacos, and empanadas, the families shared stories about what it had been like to care for children who were severely ill for reasons their doctors didn’t understand. Just before everyone went back to their hotel rooms for the night, the German woman, fighting back tears, told me, “It feels like we’ve come home, but to a home we didn’t know we had.”
The next morning 5 researchers presented their work on NGLY1 to around 90 people, a group that included the families, a handful of their friends, and scientists from as far away as Japan. Both Matt Might’s and Matt Wilsey’s parents were there, as were Michael Gambello, an Emory University geneticist who had sequenced the Stinchcombs, and Gregory Enns. Cristina Might, who was five and a half months pregnant at the time, looked on from the front row. (In June she gave birth to a healthy boy.) Bertrand, who was the most severely disabled of all the children there, sat nearby in his wheelchair, humming to himself, as Kaylee amused herself on the floor.
That afternoon Matt Might gave a talk titled “Accelerating Rare Disease.” After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’”
DENNIS OVERBYE
A Pioneer as Elusive as His Particle
FROM The New York Times
EDINBURGH, SCOTLAND—On October 8 last year, when the Nobel Prize in Physics was to be announced, Peter Higgs decided it would be a good day to get out of town.
Unfortunately, his car wasn’t working. He got as far as lunch before a neighbor intercepted him and told him that he had won the prize.
“What prize?” he joked.
It was in 1964 that Dr. Higgs, then a 35-year-old assistant professor at the University of Edinburgh, predicted the existence of a new particle—now known as the Higgs boson, or the “God particle”—that would explain how other particles get mass. Half a century later, on July 4, 2012, he pulled out a handkerchief and wiped away a tear as he sat in a lecture hall at CERN, the European Organization for Nuclear Research in Geneva, and heard that his particle had finally been found.
Dr. Higgs, now 85, doesn’t own a television or use e-mail or a cell phone. Not that he is uninterested or uninformed about the world around him. Over lunch recently he and a colleague, Alan Walker, spent half an hour parsing the implications of Scottish independence from Britain, should voters approve it Thursday. Among other things, Dr. Higgs, a longtime supporter of the Labour Party, pointed out, the departure of Scottish members would leave the British Parliament even more conservative than it is now, although he declined to say how he would vote.
But his public appearances are as rare and fleeting as the tracks of an exotic particle in the underground detectors of CERN. In a decade of covering the search for the Higgs boson, I had never managed to get a word with Dr. Higgs himself.
So I reached out to Mr. Walker, a physics professor at Edinburgh who acts as Dr. Higgs’s “digital seeing-eye dog,” in the words of a former student.
As a result of his bubblelike existence, Dr. Higgs doesn’t really know how much commotion his award has caused, Mr. Walker said, adding, “I’m his filter.”
I found Dr. Higgs looking suitably relaxed and rumpled in a lightweight parka, perusing the menu in a corner of the Cafe Royal, a downtown Victorian bistro.
Dr. Higgs said he had adjusted, sort of, to his Nobel celebrity. “I’ve learned to just say no,” he said of people stopping him on the street and asking for a photograph.
Dr. Higgs was born in Newcastle-upon-Tyne, England, in 1929, the son of a BBC engineer and a Scottish mother. His interest in physics was tweaked when, as a schoolboy in Bristol, he realized he was attending the same school as had Paul Dirac, the British theorist who was the father of quantum field theory, which describes the forces of nature as a game of catch between force-carrying bits of energy called bosons—the same field in which Dr. Higgs would rise to fame.
Now retired from the University of Edinburgh, he lives in a fifth-floor walkup in the city’s historic New Town neighborhood, around the corner from the birthplace of James Clerk Maxwell, the 19th-century Scottish theorist.
As Mr. Walker, the curator of a new show at the Royal Society of Scotland, “From Maxwell to Higgs,” put it, “Scotland gave England Maxwell, and England gave Higgs to Scotland.”
It was Maxwell, as a professor at King’s College London, who had accomplished the first great unification of physics, showing that electricity and magnetism were different manifestations of the same force, electromagnetism, that constitutes light. It would be Dr. Higgs’s fate to help physics along the next step toward a theory you could write on a T-shirt: showing that Maxwell’s electromagnetism and the so-called weak force that governs radioactivity are different faces of the same thing.
As is often the case in the zigzag progress of science, however, that’s not what Dr. Higgs thought he was doing. When he invented his boson in 1964, he said, “I wasn’t sure it would be important.”
He explained, “At the time the thought was to solve the strong force.”
According to theory, bosons that carried that force, which holds nuclei together, should be massless, like the photon that transmits light. But while light crosses the universe, the strong force barely reaches across an atomic nucleus, which by quantum rules meant the particle carrying it should be almost as massive as a whole proton. Unfortunately, the theorists could not explain how the carriers of the strong force would acquire such masses.
Adapting an idea that Philip W. Anderson of Princeton had used to help explain superconductivity, Dr. Higgs suggested that space was filled with an invisible field of energy, a cosmic molasses. It would act on some particles trying to move through it, sort of like an entourage attaching itself to a celebrity trying to make it to the bar, imbuing them with what we perceive as mass.
In some situations, he noted, a bit of this field could flake off and appear as a new particle, what would come to be called the Higgs boson. Detecting this particle would be proof of the pudding that the whole spooky idea was right.
His first paper on the subject was rejected. He rewrote it, spicing it up with a new paragraph at the end, emphasizing the prediction of a new particle.
It turned out that François Englert and Robert Brout of the Free University of Brussels had beaten him into print by seven weeks with the same idea of how mass arose, although they were not as emphatic about the new particle. “They were first,” said Dr. Higgs, adding that he had not known that until told as much by Yoichiro Nambu, who approved Dr. Higgs’s paper for the journal that published it.
Shortly thereafter, three more physicists—Tom Kibble of Imperial College London, Carl Hagen of the University of Rochester, and Gerald Guralnik of Brown University—chimed in. Dr. Englert shared the Nobel last year with Dr. Higgs; Dr. Brout had died.
But Dr. Higgs’s work turned out to be irrelevant to research on the strong force, which was ultimately transformed by the discovery of quarks.
The physicist Sheldon Glashow, now of Boston University, had proposed a theory in 1961 that unified the weak force and electromagnetic forces, but it had the same problem of explaining why the carriers of the weak part of the “electroweak force” weren’t massless.
Dr. Higgs’s magic field would have been just the ticket, but he and Dr. Glashow had just missed each other earlier and didn’t know each other’s work.
One of Dr. Higgs’s duties as a beginning professor at Edinburgh was to supply daily refreshments for a Scottish summer conference in 1960. Dr. Glashow and his friends would stash wine bottles in a grandfather clock and then come back and stay up all night drinking the wine and talking about the electroweak theory while Dr. Higgs was in bed. “I didn’t know they were drinking my wine,” he said.
The boson became a big deal in 1967 when Steven Weinberg of the University of Texas at Austin made it the linchpin unifying the weak and electromagnetic forces. It became even bigger in 1971, when the Dutch theorist Gerard ’t Hooft proved that it all made mathematical sense.
Dr. Higgs said that Benjamin Lee, a Fermilab physicist who later died in a car crash, first called it the Higgs boson at a conference around 1972, perhaps because Dr. Higgs’s paper was listed first in Dr. Weinberg’s paper.
The name stuck, not just to the particle but to the molasseslike field that produced it and the mechanism by which that field gave mass to other particles—somewhat to the embarrassment of Dr. Higgs and the annoyance of the other theorists.
“For a while,” Dr. Higgs said, laughing, “I was calling it the ‘ABEGHHKH’ mechanism,” reeling off the initials for all those who had contributed to the theory.
Interest in the boson, he said, has come and gone in waves. His first round of interviews came in the late 1980s, when CERN started up a new accelerator, the Large Electron-Positron Collider (LEP). There was another round when the LEP was closing down in 2000, despite claims from some scientists that they had seen traces of the Higgs boson. Dr. Higgs said he was skeptical. “They were pushing the machine beyond its limit,” he said.
By then Dr. Higgs had given up doing research, concluding that high-energy particle physics had moved beyond him.
He was trying to work on a fashionable new theory called supersymmetry that would further advance the unification of forces, but “I kept making silly mistakes,” he said. Indeed, he told the BBC last winter that his lack of productivity probably would have gotten him fired long ago if he had not been nominated for a Nobel Prize.
Even before the Nobel sealed his place in history, he had become an Edinburgh tourist attraction, a sort of walking monument to science, winner of the 2011 Edinburgh Award for his “outstanding contribution to the city.” In 1999 he turned down an offer of knighthood but in 2014 was named a Companion of Honor by Queen Elizabeth II.
He continued to teach until he retired in 1996, but his lack of research has kept him out of the fray and the fury that has resulted from the discovery of the boson.
The Higgs boson was the final piece of what physicists have come to call the Standard Model, which sums up knowledge of the forces and particles of nature. But it is incomplete, not explaining, for example, why there is anything in the universe at all, or what dark matter and dark energy are. Moreover, lacking any evidence for supersymmetry or a more encompassing theory, physicists can’t explain the mass of the Higgs itself, which standard quantum calculations suggest should be almost infinite. This has led some theorists to propose that our universe is only one in an ensemble of universes, the multiverse, in which the value of things like the Higgs is random.
Asked about that, Dr. Higgs lit up with a big grin. “I’m not a believer,” he said. “It’s hard enough to have a theory for one universe.”
MATTHEW POWER
Blood in the Sand
FROM Outside Magazine
IT WAS ONLY eight o’clock on the evening of May 30, 2013, but the beach was completely dark. The moon hadn’t yet risen above Playa Moín, a 15-mile-long strand of mangrove and palm on Costa Rica’s Caribbean coast. A two-door Suzuki 4×4 bumped along a rough track behind the beach. The port lights of Limón, the largest town on the coast, glowed six miles away on the horizon. There was no sound except the low roar of surf and the whine of the engine straining through drifts of sand.
Riding shotgun was Jairo Mora Sandoval, a 26-year-old Costa Rican conservationist. With a flop of black hair and a scraggly beard, he wore dark clothes and a headlamp, which he used to spot leatherback sea turtle nests on the beach. Mora’s friend Almudena, a 26-year-old veterinarian from Spain, was behind the wheel. The other passengers were U.S. citizens: Rachel, Katherine, and Grace, college students who had come to work at the Costa Rica Wildlife Sanctuary, a nonprofit animal-rescue center. Almudena was the resident vet, and the Americans were volunteers. By day they cared for the sanctuary’s menagerie of sloths, monkeys, and birds. Working with Mora, though, meant taking the graveyard shift. He ran the sanctuary’s program rescuing endangered leatherbacks, which haul their 700-plus-pound bodies onto Playa Moín each spring to lay eggs at night.
The beach’s isolation made it both ideal and perilous as a nesting spot. The same blackness that attracted the turtles, which are disoriented by artificial light, provided cover for less savory human activity. In recent years the thinly populated Caribbean coast has become a haven for everything from petty theft to trafficking of Colombian cocaine and Jamaican marijuana. For decades Playa Moín has been a destination for hueveros—literally, “egg men”—small-time poachers who plunder sea turtle nests and sell the eggs for a dollar each as an aphrodisiac. But as crime along the Caribbean coast has risen, so has organized egg poaching, which has helped decimate the leatherback population. By most estimates, fewer than 34,000 nesting females remain worldwide.
Since 2010, Mora had been living at the sanctuary and patrolling the beach for a nonprofit organization called the Wider Caribbean Sea Turtle Conservation Network, or Widecast. His strategy was to beat the hueveros to the punch by gathering eggs from freshly laid nests and spiriting them to a hatchery on the sanctuary grounds. This was dangerous work. Every poacher on Moín knew Mora, and confrontations were frequent—he once jumped out of a moving truck to tackle a huevero.
Rachel, Grace, and Almudena had accompanied Mora on foot patrols several times over the previous weeks. (Out of concern for their safety, all four women requested that their last names not be used.) They had encountered no trouble while moving slowly on foot, but they also hadn’t found many unmolested nests. On this night Mora had convinced Almudena to take her rental car. She was worried about the poachers, but she hadn’t yet seen a leatherback, and Mora was persuasive. His passion was infectious, and a romance between the two had blossomed. Almudena was attracted by his boundless energy and commitment. Something about this beach gets in you, he told her.
The sand was too deep for the Suzuki, so Mora got out and walked toward the beach, disappearing in the night. Moín’s primal darkness is essential to sea turtles. After hatching at night, the baby turtles navigate toward the brightest thing around: the whiteness of the breaking waves. Males spend their lives at sea, but females, guided by natal homing instincts, come ashore every two or three years to lay eggs, often to the same beaches where they hatched.
Around 10:30, Almudena got a call—Mora had found a leatherback. The women rushed to the beach, where they saw a huge female baula backfilling a nesting hole with its hind flippers. Mora stood nearby alongside several hueveros. One was instantly recognizable, a 36-year-old man named Maximiliano Gutierrez. With his beard and long reddish brown dreadlocks, “Guti” was a familiar presence on Moín.
Mora had forged a reluctant arrangement with Guti and a few other regular poachers: if they arrived at a nest simultaneously, they’d split the eggs. After measuring the turtle—it was nearly six feet long—Mora and Rachel took half the nest, about 40 cue-ball-sized eggs, and put them into a plastic bag. Then Guti wandered off, and the turtle pulled itself back toward the surf.
When they returned to the road, a police patrol pulled up. The cops warned Mora that they had run into some rough characters earlier that night, then drove off as Mora and the women headed south, toward the sanctuary, just six miles away. Soon they came upon a palm trunk laid across the narrow track—a trick the hueveros often played to mess with police patrols. Mora hopped out, hefting the log out of the way as Almudena drove past. Just
as Mora put the log back, five men stepped out of the darkness. Bandannas covered their faces. They shouted at everyone to put their hands up and their heads down. Then they grabbed Mora.
“Dude, I’m from Moín!” he protested, but the men threw him to the ground.
Masked faces crowded into Almudena’s window. The men demanded money, jewelry, phones, car keys. They pulled Almudena out and frisked her, and the Americans stayed in the car as the men rifled through it, snatching everything of value, including the turtle eggs. Almudena saw two of the men stuffing a limp Mora into the tiny cargo area. The four women were jammed into the back seat with a masked man sprawled on top of them. As the driver turned the Suzuki around, Almudena reached behind the seat and felt Mora slip his palm into hers. He squeezed hard.
The driver pulled off next to a shack in the jungle, and the men, claiming to be looking for cell phones, told the girls to lift their shirts and drop their pants. Mosquitoes swarmed them. After being frisked, Almudena caught a glimpse of two of the men driving off in the Suzuki. Mora was still in the trunk.
The four young women sat on logs behind the hut with two of their captors. The guys seemed young, not more than 20, and were oddly talkative for criminals. They said they understood what the conservationists were trying to do, but they needed to feed their families. One said that Mora “didn’t respect the rules of the beach.”
The Best American Science and Nature Writing 2015 Page 27