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Spinal Muscular Atrophy
Working to Cure the Most Deadly Genetic Disorder of Children Under the Age of 2

Ten years ago, Umrao Monani was just a young investigator, fresh from his Ph.D. studies in neurology, when he almost quite literally bumped into the inspiration for his life's work.

"I was at an event where I met wheelchair-bound kids; I was immediately struck by how bright, happy and spirited they were-zipping and zooming around in their wheelchairs," says Dr. Monani, a molecular geneticist who is now an assistant professor of neurology at Columbia. "It turned out these kids all had SMA, or spinal muscular atrophy, a neuromuscular disease that I knew to be devastating even in its mildest form. SMA is the leading genetic killer of children under the age of two."

But, according to Dr. Monani, perhaps even sadder than knowing that was hearing their parents talk about the reality of their children's already truncated lives.

"I listened to these parents describe how frustrated their otherwise vibrant children were with all of the physical limitations-the fun they were missing out on, the games they couldn't play with their friends, all of the disheartening things that come along with an SMA diagnosis. It upset me…and convinced me right then and there I needed to do something to help these kids."

"I listened to these parents describe how frustrated their otherwise vibrant children were with all of the physical limitations-the fun they were missing out on, the games they couldn't play with their friends, all of the disheartening things that come along with an SMA diagnosis. It upset me…and convinced me right then and there I needed to do something to help these kids."

With SMA, which affects one out of every 6000 children, the nerve cells in the spinal cord that relay messages from the brain to the muscles waste away, causing the muscles themselves to atrophy. There is currently no effective treatment for the disease. For children with mild cases, the diagnosis means a shortened life span-and lives largely devoid of the activities that make childhood so meaningful. For children with the most severe cases, the diagnosis means certain death, usually before 18 months of age.

With SMA, which affects one out of every 6000 children, the nerve cells in the spinal cord that relay messages from the brain to the muscles waste away, causing the muscles themselves to atrophy. There is currently no effective treatment for the disease. For children with mild cases, the diagnosis means a shortened life span-and lives largely devoid of the activities that make childhood so meaningful. For children with the most severe cases, the diagnosis means certain death, usually before 18 months of age.

With SMA, which affects one out of every 6000 children, the nerve cells in the spinal cord that relay messages from the brain to the muscles waste away, causing the muscles themselves to atrophy. There is currently no effective treatment for the disease. For children with mild cases, the diagnosis means a shortened life span-and lives largely devoid of the activities that make childhood so meaningful. For children with the most severe cases, the diagnosis means certain death, usually before 18 months of age.

Dr. Monani's mouse models are currently among the most widely used in SMA research. And his work has already yielded important results: He has discovered that animals with SMA are born with a normal number of presumably healthy nerve cells, demonstrating that there is a window of time just after birth during which treatment could prevent the disease from developing.

Dr. Monani's mouse models are currently among the most widely used in SMA research. And his work has already yielded important results: He has discovered that animals with SMA are born with a normal number of presumably healthy nerve cells, demonstrating that there is a window of time just after birth during which treatment could prevent the disease from developing.

"The NIH has identified SMA as the neurological disease with the greatest potential for a treatment or cure in the near future," says Dr. Monani. "If I can contribute in any tiny way to this process-helping give these children the lives filled with the opportunities they deserve-that's enough for me."
© 2005 Columbia University