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Spinal Muscular Atrophy (SMA)

颁厂贬尝鈥檚 Adrian Krainer, Ph.D. has devoted his expertise in alternative splicing鈥攁 cellular process for editing RNA鈥攖owards fixing the genetic glitch that underlies Spinal Muscular Atrophy (SMA), a neuromuscular disease that鈥檚 currently the No.1 genetic cause of death among children under the age of two.

SMA is a disorder affecting the motor neurons鈥攏erve 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鈥攚eaken and shrink鈥攆rom 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鈥檚 illness, a scientist鈥檚 quest, and the circumstances that made possible the successful development of a life-saving treatment.