Collaborators Adrian Krainer, of Cold Spring Harbor Laboratory, and C. Frank Bennett, from Ionis Pharmaceuticals, received the 2019 Breakthrough Prize in Life Sciences. They won for the development of the first effective therapy for spinal muscular atrophy, Spinraza. Dr. Krainer is a long time member of the the CURE SMA Scientific Advisory Board, and his lab has been a past recipient of Cure SMA grant funding.

The Breakthrough Prize in Life Sciences honors transformative advances toward understanding living systems and extending human life. Krainer’s work did just that when he developed a new therapy for SMA based on a biological process called RNA splicing. SMA is caused by a faulty Survival of Motor Neuron (SMN1) gene, which produces a protein that is crucial for motor neurons, the nerve cells that control muscles, called SMN. Using their knowledge of RNA splicing, Krainer and his CSHL colleagues, in collaboration with Bennett’s team at Ionis, developed a way to activate a backup gene present in all SMA patients called SMN2. Doing so causes SMN2 to make more of crucial SMN protein. The resulting drug, nusinersen (Spinraza), was successfully tested in clinical trials, sponsored by Ionis and Biogen, resulting in FDA approval in December 2016.

Nusinersen is the first FDA-approved treatment for SMA and is the first of a promising new breed of antisense therapies now in development for various neurological disorders, cancer, and other diseases.

“I strongly believe in the importance of collaboration between academic research and industry,” Krainer said. “Frank and I, and our respective teams, have different areas of expertise—on RNA splicing and antisense pharmacology. It was by combining our unique strengths that we managed to accomplish something so important, from which thousands of SMA patients are now benefitting.”

“Working with Adrian has been one of my most enjoyable collaborations,” said Bennett, “It was like two streams of basic research coming together. It was almost magic—the way things ended up working.”

The Breakthrough Prize award ceremony will take place on November 4th at the NASA Ames Research Center in Palo Alto, California.

Cure SMA Provides Seed Funding for Spinraza

From 2003 to 2006, Cure SMA provided the very first research funding needed to begin investigation into the therapeutic approach behind SPINRAZA. We would like to thank and acknowledge Cold Spring Harbor Laboratory (CSHL) and the University of Massachusetts Medical School for generating critical intellectual property for the program that was licensed to Ionis Pharmaceuticals. We specifically thank Drs. Adrian Krainer, Yimin Hua and colleagues at CSHL for years of dedication to and hard work on the preclinical development of Spinraza for SMA, and Drs. Ravindra Singh and Elliot Androphy for their work funded by Cure SMA in originally identifying the ISSN1 gene sequence, which is the sequence targeted in Spinraza.