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Spinal Muscular Atrophy (SMA)

CSHL’s Adrian Krainer, Ph.D. has devoted his expertise in alternative splicing—a cellular process for editing RNA—towards fixing the genetic glitch that underlies Spinal Muscular Atrophy (SMA), a neuromuscular disease that’s currently the No.1 genetic cause of death among children under the age of two.

SMA is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. These cells are located in the spinal cord. Because the muscles cannot respond to signals from the nerves, they atrophy—weaken and shrink—from inactivity.

SMA can affect a child’s ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing.

Learn more about the story of a child’s illness, a scientist’s quest, and the circumstances that made possible the successful development of a life-saving treatment.