Abstract
One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient. As a team, we have worked for the past eight years to discover a drug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA). Here, we describe the journey that has led to a promising drug based on the biology underlying the disease.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Humans
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Mice
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Mice, Transgenic
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Muscular Atrophy, Spinal / drug therapy*
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Muscular Atrophy, Spinal / genetics
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Oligonucleotides, Antisense / pharmacology*
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RNA, Messenger / drug effects
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RNA, Messenger / genetics
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Survival of Motor Neuron 1 Protein / antagonists & inhibitors
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Survival of Motor Neuron 1 Protein / genetics
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Survival of Motor Neuron 2 Protein / antagonists & inhibitors
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Survival of Motor Neuron 2 Protein / genetics
Substances
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Oligonucleotides, Antisense
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RNA, Messenger
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SMN1 protein, human
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SMN2 protein, human
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Survival of Motor Neuron 1 Protein
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Survival of Motor Neuron 2 Protein