A Breakthrough Global Study of Depression Finds 44 Genetic Variants Linked to the Disease

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Though depression affects an estimated 14 percent of the world’s population, scientists know very little about the underlying causes of the disorder, and that makes it incredibly difficult to treat. Even now, researchers are still debating whether common antidepressant medications even work at all, and if they do, why.

New research published in the journal Nature Genetics provides a big step in figuring out why some people suffer from depression while others don’t, identifying 44 genetic variants that are risk factors for major depression, 30 of which are new. They also found two regions of the brain that appear to be associated with the development of the disorder.

The study is the result of an international effort by more than 200 researchers involved with the Psychiatric Genomics Consortium. It looked at more than 135,000 cases of depression (both self-reported and clinically assessed) and almost 345,000 control cases. It’s the largest study on the genetic basis of depression ever done.

The researchers found that all humans carry some of the 44 risk factors identified. Some people carry more than others, putting them at greater risk for developing depression. They also identified the prefrontal and anterior cingulate cortices (both located at the front of the brain) as the regions of the brain probably linked with the development of depression.

Some of the risk factors the researchers identified are also involved in other psychiatric disorders, like schizophrenia, which isn't entirely surprising—a 2007 study from the Psychiatric Genomics Consortium found that people with depression, bipolar disorder, and schizophrenia as well as developmental disorders like ADHD and autism share the same variations in four locations in their genetic code.

By identifying genetic risk factors associated with major depressive disorder, the scientists hope to increase our understanding of why depression strikes some people and not others. "[M]ajor depression is a brain disorder," the researchers conclude. "Although this is not unexpected, some past models of [major depressive disorder] have had little or no place for heredity or biology." They firmly put to rest the idea that depression is entirely a matter of environment.

Environment certainly plays a role—the researchers found links between lower education levels and higher body mass index and depression risk as well—but genetics may impact whether someone whose circumstances put them at risk of depression actually develops the disorder. Depression is still highly stigmatized, which often prevents people from seeking treatment for it, according to several studies. Further understanding of the genetic underpinnings of the disorder may help counter negative perceptions of depression as a character flaw or a sign of laziness.

The study could eventually change how doctors treat depression. Many of the genetic variants identified by this study are linked to targets of current antidepressant medications, like serotonin. But the research may also lead to the development of new medications and therapies that could work for more people (current medications don't work for everyone) and potentially have fewer side effects than existing treatments.

The study partially relied on self-reported depression diagnoses, meaning there's some wiggle room in knowing whether those people are actually clinically depressed to the degree that a medical professional would diagnose. Further research will need to confirm that these genetic variants are indeed linked to depression. There are likely even more gene variants related to depression risk, as well, but they might have too small of an effect to be identified by this study. The researchers hope to continue their work to understand the links between environmental stressors, genetic variations, and depression risk in the future.

11 Things You Might Not Know About Neil Armstrong

NASA/Hulton Archive/Getty Images
NASA/Hulton Archive/Getty Images

No matter where private or government space travel may take us in the future, NASA astronaut Neil Armstrong (1930-2012) will forever have a place as the first human to ever set foot on solid ground outside of our atmosphere. Taking “one small step” onto the Moon on July 20, 1969, he inspired generations of ambitious people to reach for the stars in their own lives. On the 50th anniversary of Apollo 11, we're taking a look back at the life of this American hero.

1. Neil Armstrong knew how to fly before he got a driver's license.

Neil Armstrong poses for a portrait 10 years before the 1969 Apollo mission
NASA/Hulton Archive/Getty Images

Born August 5, 1930 in Wapakoneta, Ohio, Armstrong became preoccupied with aviation early on. At around age 6, his father took him on a ride in a Ford Trimotor airplane, one of the most popular airplanes in the world. By age 15, he had accumulated enough flying lessons to command a cockpit, reportedly before he ever earned his driver’s license. During the Korean War, Armstrong flew 78 combat missions before moving on to the National Advisory Committee for Aeronautics (NACA), the precursor to NASA.

2. Neil Armstrong's famous quote was misheard back on Earth.

When Armstrong and Buzz Aldrin touched down on the Moon, hundreds of millions of television viewers were riveted. Armstrong could be heard saying, “That’s one small step for man, one giant leap for mankind.” But that’s not exactly what he said. According to the astronaut, he was fairly sure he stated, “That’s one small step for a man, one giant leap for mankind.” The “a” may have broken up on transmission or it may have been obscured as a result of his speaking patterns. (According to First Man: The Life of Neil A. Armstrong, Armstrong said, “I’m not particularly articulate. Perhaps it was a suppressed sound that didn’t get picked up by the voice mike. As I have listened to it, it doesn’t sound like there was time for the word to be there. On the other hand, I think that reasonable people will realize that I didn’t intentionally make an inane statement, and certainly the ‘a’ was intended, because that’s the only way the statement makes any sense. So I would hope that history would grant me leeway for dropping the syllable and understand that it was certainly intended, even if it wasn’t said—although it actually might have been.”) Armstrong claimed the statement was spontaneous, but his brother and others have claimed he had written it down prior to the mission.

3. We don't have a really good picture of Neil Armstrong on the Moon.

Buzz Aldrin is seen walking on the moon
NASA/Hulton Archive/Getty Images

One of the most celebrated human achievements of the 20th century came at a time when video and still cameras were readily available—yet there are precious few images of Armstrong actually walking on the surface of the Moon. (One of the most iconic shots, above, is Aldrin; Armstrong only appears as a reflection in his helmet.) The reason, according to Armstrong, is that he really didn’t care and didn’t think to ask Aldrin to snap some photos. “I don't think Buzz had any reason to take my picture, and it never occurred to me that he should,” Armstrong told his biographer, James R. Hansen. “I have always said that Buzz was the far more photogenic of the crew."

4. A door hinge may have made all the difference to the Apollo 11 mission.

Theories abound as to why it was Armstrong and not Buzz Aldrin who first set foot on the Moon. (On the Gemini missions, the co-pilot did the spacewalks, while the commander stayed in the craft. For Apollo 11, Armstrong was the commander.) The answer may have been the simple logistics of getting out of their lunar module. The exit had a right hinge that opened inwardly, with the man sitting on the left (Armstrong) having the most unobstructed path to the outside. Aldrin would have essentially had to climb over Armstrong to get out first.

5. Neil Armstrong was more concerned about landing on the Moon than he was walking on it.

The lunar module that took NASA astronauts to the moon
NASA/Hulton Archive/Getty Images

The romantic notion of a human stepping foot on space soil captured imaginations, but for Armstrong, it was getting there in one piece that was the real accomplishment. The lunar module Armstrong controlled had to be brought down on the Moon’s surface from 50,000 feet up, avoiding rocks, craters, and other obstacles as it jockeyed into a position for landing. Because there is no air resistance, nothing could slow their descent, and they used thrusters to guide the craft down. That meant there was only enough fuel to attempt it once. The “business” of getting down the ladder was, in Armstrong’s view, less significant.

6. Neil Armstrong was carrying a bag worth $1.8 million.

When Armstrong surveyed the surface of the Moon, he collected a bag of dust for NASA scientists to examine. Apollo moon samples are illegal to buy or sell, but that apparently wasn't the case with the “lunar collection bag” Armstrong used to hold the samples. In 2015, the bag was purchased by Chicago resident Nancy Lee Carlson from a government auction site for $995. But its sale was, apparently, an accident: When Carlson sent the bag to NASA to confirm its authenticity, NASA said it was their property and refused to send it back—so Carlson took the agency to court. A judge ruled it belonged to Carlson, and in 2017, she sold the bag for a whopping $1.8 million at a Sotheby’s auction.

7. Neil Armstrong and his fellow Apollo 11 astronauts had to spend three weeks in quarantine.

Richard Nixon greets the returning Apollo 11 astronauts
NASA/Hulton Archive/Getty Images

When Armstrong, Aldrin, and Michael Collins (who remained behind in the command module while the other two touched down on the Moon) returned to Earth and were fetched by the USS Hornet, they got a king’s welcome. The only asterisk: They had to bask in their newfound fame from inside a sealed chamber. All three men were quarantined for three weeks in the event they had picked up any strange space virus. When President Richard Nixon visited, he greeted them through the chamber’s glass window.

8. Neil Armstrong's space suit was made by Playtex.

Yes, the undergarment people. In the early 1960s, NASA doled out contract work for their space suits to government suppliers, but it was Playtex (or more properly the International Latex Corporation) and their understanding of fabrics and seams that led to NASA awarding them responsibility for the Apollo mission suits. Their A7L suit was what Armstrong wore to insulate himself against the harsh void of space when he made his famous touchdown. The astronaut called it “reliable” and even “cuddly.”

9. Neil Armstrong became a university professor.

Newil Armstrong sits behind a desk in 1970
AFP/Getty Images

Following his retirement from NASA in 1971, Armstrong was reticent to remain in the public eye. Demands for his time were everywhere, and he had little ambition to become a walking oral history of his singular achievement. Instead, he accepted a job as a professor of engineering at the University of Cincinnati and remained on the faculty for eight years.

10. Neil Armstrong once sued Hallmark.

Hallmark was forced to defend itself when Armstrong took issue with the company using his name and likeness without permission for a 1994 Christmas ornament. The bulb depicted Armstrong and came with a sound chip that said phrases like, “The Eagle has landed.” The two parties came to an undisclosed but “substantial” settlement in 1995, which was, according to First Man, donated to Purdue University (minus legal fees).

11. Neil Armstrong was a Chrysler pitchman.

Armstrong’s preference to lead a private life continued over the decades, but he did make one notable exception. For a 1979 Super Bowl commercial spot, Armstrong agreed to appear on camera endorsing Chrysler automobiles. Armstrong said he did it because he wanted the struggling U.S. car maker to improve their sales and continue contributing to the domestic economy. The ads never mentioned Armstrong was an astronaut.

Pioneering Heart Surgeon René Favaloro Is Being Honored With a Google Doodle

Dr. René Favaloro (left) pictured with colleague Dr. Mason Sones.
Dr. René Favaloro (left) pictured with colleague Dr. Mason Sones.
The Cleveland Clinic Center for Medical Art & Photography, Wikimedia Commons // CC BY 4.0

Argentinian heart surgeon René Favaloro is the subject of today’s Google Doodle, which features a sketched portrait of the doctor along with an anatomical heart and several medical tools, The Independent reports.

The renowned doctor was born on this day in 1923 in La Plata, the capital of Argentina’s Buenos Aires province, and pursued a degree in medicine at La Plata University. After 12 years as a doctor in La Pampa, where he established the area’s first mobile blood bank, trained nurses, and built his own operating room, Favaloro relocated to the U.S. to specialize in thoracic surgery at the Cleveland Clinic.

In 1967, Favaloro performed coronary bypass surgery on a 51-year-old woman whose right coronary artery was blocked, restricting blood flow to her heart. Coronary bypass surgery involves taking a healthy vein from elsewhere in the body (in this case, Favaloro borrowed from the patient’s leg, but you can also use a vein from the arm or chest), and using it to channel the blood from the artery to the heart, bypassing the blockage. According to the Mayo Clinic, it doesn’t cure whatever heart disease that caused the blocked artery, but it can relieve symptoms like chest pain and shortness of breath, and it gives patients time to make other lifestyle changes to further manage their disease.

Favaloro wasn’t keen on being called the “father” of coronary bypass surgery, but his work brought the procedure to the forefront of the clinical field. He moved back to Argentina in 1971 and launched the Favaloro Foundation to train surgeons and treat a variety of patients from diverse economic backgrounds.

Favaloro died by suicide on July 29, 2000, at the age of 77, by a gunshot wound to the chest. His wife had died several years prior, and his foundation had fallen deeply into debt, which Argentinian hospitals and medical centers declined to help pay, The New York Times reported at the time.

“As a surgeon, Dr. Favaloro will be remembered for his ingenuity and imagination,” his colleague Dr. Denton A. Cooley wrote in a tribute shortly after Favaloro’s death. “But as a man ... he will be remembered for his compassion and selflessness.” Today would have been his 96th birthday.

[h/t The Independent]

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