In 2013, Zoe Harting became the first baby in the world to receive an experimental drug that her doctors hoped would save the lives of thousands of infants like her.
Dec 6, 2016
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For the first time, scientists found that in spinal muscular atrophy (SMA), the affected nerve cells that control muscle movement, or motor neurons, have defects in their mitochondria, which generate energy used by the cell. ...
Sep 15, 2016
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Researchers at the University of Missouri have identified a communication breakdown between nerves and muscles in mice that may provide new insight into the debilitating and fatal human disease known as spinal muscular atrophy ...
Sep 26, 2011
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Gene therapy—for so long something that belonged to the future—has just hit the streets.
Jun 5, 2019
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Infants as young as five weeks old with the most severe form of spinal muscular atrophy (SMA) - a leading genetic cause of infant mortality - can be treated safely with nusinersen. This investigational treatment slowed progression ...
Dec 6, 2016
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Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the location of the tumors. Chemotherapy has debilitating side ...
Apr 12, 2023
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Internet sites offer help for people suffering from a dizzying array of serious conditions, including: Alzheimer's, Amyotrophic lateral sclerosis, atherosclerosis, autism, brain damage, cancer, cerebellar ataxia, cerebral ...
Dec 3, 2012
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Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are degenerative motor neuron diseases in which the key mutated genes are involved in RNA metabolism. This similarity suggests that a common dysregulation ...
Apr 26, 2013
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Spinal muscular atrophy (SMA) is the leading genetic cause of death in children under 2, with no treatment other than supportive care. In the Proceedings of the National Academy of Sciences, researchers at Children's Hospital ...
Jun 6, 2011
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Scientists and doctors know that the devastating disease spinal muscular atrophy (SMA) arises from a problem with both copies of the SMN1 gene, leading to a lack of the survival motor neuron (SMN) protein. But they don't ...
Jul 11, 2016
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