Cold Spring Harbor Laboratory professor Adrian Krainer's research enhanced the...

Cold Spring Harbor Laboratory professor Adrian Krainer's research enhanced the understanding of a hereditary disease called spinal muscular atrophy and resulted in the U.S. Food and Drug Administration approving a medication called Spinraza. Credit: Danielle Silverman

A Cold Spring Harbor Laboratory professor will split one of the most lucrative awards in science — a $3 million Breakthrough Prize — for his research on a rare neurodegenerative disease and the lifesaving medication to treat it.

Adrian Krainer, who won in Life Sciences, is the first Long Island researcher to win a Breakthrough Prize in that category. In 2015, a team of Stony Brook physicists led by Chang Kee Jung won in the Fundamental Physics category. Sir Simon Donaldson, a professor at Stony Brook’s Center for Geometry and Physics, was honored in 2014 with a prize in Mathematics.

The latest winners, chosen by a panel of previous laureates, were announced Wednesday. This is the seventh year the prizes have been awarded.

Krainer’s research not only enhanced the understanding of a hereditary disease known as spinal muscular atrophy, it resulted in the U.S. Food and Drug Administration approving a medication called Spinraza, developed by Krainer and his colleagues.

C. Frank Bennett of Ionis Pharmaceuticals in California, who collaborated with Krainer, will share the prize in the Life Sciences category.

Krainer said he found out about his award in a phone call from a previous Breakthrough Prize winner.

“It is not my personality to be bubbly, but yes, this is exciting,” said Krainer, a biochemist who specializes in the arcane science of RNA splicing, which was critical to the development of the medication — a form of gene therapy — that treats the rare and once-fatal disease. His research altered the fate of children who otherwise would have died.

The prizes are sponsored by Sergey Brin, co-founder of Google, Mark Zuckerberg of Facebook, and his wife, Priscilla Chan of the Chan-Zuckerberg Initiative, among other Silicon Valley entrepreneurs. The prizes have been dubbed the Oscars of Science.

Angelika Amon of MIT won for her research on chromosomal abnormalities that lead to Down syndrome and miscarriage; Xiaowei Zhuang of Harvard, for her discoveries of hidden structures in cells revealed for the first time via imaging technology she developed; and Zhijian “James” Chen of the University of Texas, for work showing how DNA governs immune and autoimmune responses.

Breakthrough Prizes also honored research in physics and mathematics.

Krainer said the honor trains a spotlight on the power of basic research. “This brings attention to translational science and recognizes the work from my lab and this institution,” he said.

Translational science is the process of turning laboratory research into interventions that benefit human health.

On the day of Spinraza’s approval — Dec. 23, 2016 — the drug lifted a death sentence from thousands of children nationwide. One in 8,000 babies in the United States are born with spinal muscular atrophy. Coming as it did during the holiday season, some parents called the drug approval a Christmas gift.

“He saved my daughter’s life and her quality of life,” said Dianne Larson, who lives in Middle Island. She congratulated Krainer, saying the Breakthrough Prize is well-deserved.

“On July 22, 2014, our daughter Emma was diagnosed with spinal muscular atrophy. She was 1 1/2 years old,” Larson said, noting that at the time the disorder was the leading genetic cause of death in infants. There were no treatments.

“Basically, we were told that she would get weaker over time and eventually die,” said Larson, who enrolled Emma in a clinical trial of Krainer’s drug that same year.

The medication has worked wonders, Larson said.

“She’s crawling, standing, can walk short distances in her walker and is now learning to walk with crutches,” Larson said.

She thanked the scientist for never giving up.

Krainer first journeyed into the molecular underpinnings of spinal muscular atrophy nearly two decades ago. He learned how it destroyed nerve cells in the spinal cord and brainstem; some children died before age 2.

Patients with the disease, he said, do not have a healthy copy of a gene called SMN1, which holds the blueprint for a protein that is key to the survival of nerve cells.

There is a second gene, SMN2, which theoretically could serve as a backup, but is a poor substitute. SMN2 in all people — with and without the disease — is genetically faulty. It does not have the necessary genetic code to reliably produce nerve-protecting protein.

Krainer conceived a way to compensate for nature’s weakness in SMN2 by splicing — editing in — messages into RNA via the medication.

He and Bennett developed molecules called antisense oligonucleotides during a 12-year collaboration. The molecules provide the chemical backbone of Spinraza and allow the appropriate nerve-protecting protein to be produced.

“Congratulations to Adrian Krainer, who has demonstrated the power of basic research to change people’s lives,” said Dr. Bruce Stillman, president and chief executive of Cold Spring Harbor Laboratory.

The awards ceremony for the Breakthrough Prizes will be held and televised Nov. 4 at NASA Ames Research Center in Silicon Valley.

CORRECTION: A previous version of this story did not make clear that Krainer split the $3 million prize with Bennett.

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