This year, a total of $22 million will go to researchers pushing boundaries in disease treatments, astrophysics, and more.
Scientists and mathematicians who are making strides in human health, developing new technologies, and expanding our knowledge of the cosmos are among the recipients of the 2019 Breakthrough Prizes. Each major prize, awarded in the categories of life sciences, fundamental physics, and mathematics, comes with a $3-million check.
Sponsored by Silicon Valley notables such as Yuri Milner and Mark Zuckerberg, it’s one of the largest science prizes offered, and this year’s awards ceremony, to be broadcast live November 4 on National Geographic, promises to be an appropriately star-studded affair. With Pierce Brosnan hosting, the Breakthrough Prize winners will accept their awards from a variety of presenters, including actors such as Lupita Nyong’o and Zoe Saldana.
“I’m extremely grateful to have been selected,” says MIT’s Angelika Amon, one of the winners of the prize in life sciences. “I’m the representative of all the people who work with me over the years, who this prize is really for—my students and postdocs and trainees, really, they are the winners here.”
It’s not easy making a discovery that, over time, merits the term “breakthrough.” What often seems like serendipity is really a combination of hard work and enough insight to pay attention to the right details.
That’s exactly what happened for Dame Jocelyn Bell Burnell, the astronomer receiving this year’s Special Prize in Fundamental Physics. As a graduate student in 1967, she noticed an odd bit of data that would prove to be revolutionary: a strange signal in records of radio waves that led her to discover pulsars, a type of object never before seen in the cosmos.
Today, we know that pulsars are rapidly spinning neutron stars, which are the collapsed corpses of stars formerly much larger than the sun. As they spin, pulsars emit beams of radiation that appear like pulses to telescopes on Earth. The Nobel Prize committee awarded its 1974 physics prize for the discovery—to Bell Burnell’s advisor. Now, though, the find has earned her a special Breakthrough prize.
Fittingly, Bell Burnell is a champion for women and minorities in science. And that $3 million check she’s earning? She’s donating it to a charity in the U.K. that supports physics graduate students from under-represented groups.
If Bell Burnell’s 1967 discovery could be called the birth of pulsars, it is perhaps fitting that another of this year’s winners earned a prize for studying the deaths of neutron stars.
“In some ways I’m getting a prize for the first time we found out how to destroy neutron stars,” says Columbia University astrophysicist Brian Metzger, who was awarded one of three $100,000 prizes for New Horizons in Physics.
Metzger helped figure out that most of the universe’s gold comes from cataclysmic collisions between neutron stars, a theory that has since been backed up by observations. These intense smashups create what Metzger called a kilonova, a type of explosion that is intermediate in brightness between a supernova (when a dying star explodes) and a nova (when a star has a brief spasm).
In 2010, Metzger came up with a theory describing how bright a kilonova should be, which in turn offered scientists a pile of information about the nuclear physics at the heart of such an explosion, including its potential for synthesizing rare and coveted heavy elements.
In 2017, astronomers caught two neutron stars in the act of merging. The collision was so violent that it shook the fabric of spacetime, producing gravitational waves that alerted thousands of astronomers to the unfurling event. They all watched a kilonova very similar to what Metzger had predicted, and further observations confirmed that the explosion produced gold, platinum, uranium, and other treasured elements.
“We found where gold is coming from in nature, and we saw what happens when two neutron stars slam together and make a black hole,” Metzger says. “How would the world have evolved differently if neutron star mergers were 10 times as common, and gold were not such a rare commodity?”
In the beginning, Metzger says, it took a bit of work to convince his colleagues that he was on to something, given that his ideas ran contrary to a long-standing theory pointing to a different type of cosmic goldmine.
It’s a sentiment that Angelika Amon, a winner of one of the four Breakthrough Prizes in Life Sciences, echoes: “What we found was not what people expected, and they had a hard time believing it,” she says of her own work. “But the data are the data.”
Amon studies aneuploidy, a condition in which cells have the wrong number of chromosomes. If this sounds bad, it is. Normally, the human genome is organized into 23 pairs of chromosomes, or 46 total. But sometimes embryos form with abnormal numbers of chromosomes—either too many or too few.
The vast majority of these aneuploidies are so lethal that early fetal death and miscarriage occur. Others produce nonlethal conditions such as Down Syndrome. And in certain cells, aneuploidies are linked to the unchecked growth that we call cancer. Amon decided to ask why this change in chromosomes seems to have such varying effects.
“If you have one extra chromosome, it can be really bad for organisms—it makes you stop growing and stop proliferating,” she says. “But cancer is a disease that’s characterized by unabated growth, so there’s something happening that doesn’t make sense.”
What she found through years of work in budding yeast and mammals is that aneuploidies produce enough stress to disable normal cellular checks and balances, which leads to a rapid accumulation of genetic mutations. In other words, abnormal numbers of chromosomes are quite detrimental even in cancer cells.
“It took us a long time for people to believe us,” she recalls. “But if aneuploidy were such a good thing, nature would have evolved it.”
Now, Amon is studying the mechanisms by which aneuploidies promote tumor growth, with the goal of identifying targets for potential cancer treatments.
Frank Bennett and Adrian Krainer have already treated a lethal disease: The prize-winning pair developed a treatment for spinal muscular atrophy, a rare neurodegenerative disease that, in its most severe form, kills most children before they’re two years old. Approved by the FDA in 2016, the treatment is now available commercially and offers affected individuals a chance at a normal life.
“These infants that were treated by the drug, they’re getting better,” says Bennett, who works at Ionis Pharmaceuticals. “Some patients have been on the drug for over six years and they’re still improving. We don’t know what the final achievement is going to be, but they continue to improve as they’re getting dosing.”
Spinal muscular atrophy is the result of several genetic mutations that reduce the amount of a protein called survival motor neuron 1. Without it, motor neurons in the spinal cord vanish, and muscles weaken and atrophy. Bennett and Krainer realized that instead of attempting to correct the mutated genetic sequences at the root of the problem, they could instead modify the ways cells processed the genes’ correspondingly mutated transcripts.
Normally, genes are transcribed into messenger transcripts, which are then edited in a variety of ways and sent off to the cellular factories that assemble proteins. Bennett and Krainer managed to trick cells into processing a mutated transcript as though it were normal, restoring functional protein levels.
Their treatment has been administered to infants who have been diagnosed with the disease before they’re symptomatic. Now, those kids are reaching normal developmental milestones like sitting up and walking, which was previously unheard of for patients with the most severe forms of the disease.
“I think what this is telling us is that, one, neurodegenerative diseases are reversible, to some extent,” Bennett says. “And two, that if you treat prophylactically, you might prevent the disease from occurring, or at least it’ll have a milder form.” For many, a future free from the death sentences imposed by neurodegenerative diseases might seem unreachable; for Bennett, it’s possible.
“The winners of the Breakthrough Prize in Life Science show us all how it’s done,” Cori Bargmann, chair of the selection committee and a former prize winner, says in a statement. “Through creativity, innovation, persistence, and skill, each of them brought about an advance that was previously unimaginable.”