The inventor and developer of a drug, nusinersen (Spinraza), are among the winners of the Breakthrough Prize in Life Sciences. Adrian Krainer (pictured) of Cold Spring Harbor Laboratory and Frank Bennett, senior vice president of research at Ionis Pharmaceuticals, share the $3 million award. The Breakthrough Prizes, now it their seventh year, tout themselves as the world’s biggest prize in science and are sponsored by Sergey Brin, Priscilla Chan and Mark Zuckerberg, Ma Huateng, Yuri and Julia Milner, and Anne Wojcicki.
Nusinersen, marketed by Biogen (NASDAQ: BIIB), is used to treat a rare childhood disease called spinal muscular atrophy (SMA), and was the first FDA-approved drug for this severe and potentially fatal genetic disorder.
SMA causes muscle wasting that can lead to death, and is caused by a defect in a gene called SMN1. Krainer figured out a way to compensate for this error by boosting production of a protein made from a related gene, SMN2. He and his team worked with researchers from San Diego-based Ionis (NASDAQ: IONS), led by Bennett, to develop a small RNA molecule called an antisense oligonucleotide (ASO) that binds to the SMN2 RNA molecule and increases production of functional SMN protein. Ionis began testing nusinersen in humans in 2011, partnered with Biogen to continue development, and the drug was FDA approved in 2016.
Krainer recently co-founded a Boston-area based startup, Stoke Therapeutics, which is working on ASOs for other genetic diseases.
The other winners of this year’s Breakthrough Life Sciences prizes are MIT’s Angelika Amon, for her work on the effect of abnormal numbers of chromosomes, Harvard’s Xiaowei Zhuang, for her invention of a super high resolution imaging technique that has revealed new cellular structures, and Zhijian “James” Chen of the University of Texas Southwestern Medical Center, for research on how cells detect and respond to foreign DNA. Past notable winners include Jennifer Doudna and Emmanuelle Charpentier, key discoverers of CRISPR-Cas9 gene editing.