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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Researchers have introduced the world's first infant exoskeleton designed to help children with spinal muscular atrophy, a degenerative illness. Weighing 12 kilos, the apparatus is made of aluminium and titanium, and is designed ...
Jun 9, 2016
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Many pediatricians and pediatric subspecialists believe that their clinical care extends from treating ill children through end-of-life care. However, are pediatricians actually meeting the needs of families and their dying ...
May 27, 2016
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Spinal muscular atrophy (SMA) is a disease that causes progressive degeneration in the nerve cells that control muscles, thereby causing muscle weakness and eventually death. SMA affects approximately 200,000 people in the ...
May 5, 2016
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Neuroscientists have discovered a specific enzyme that plays a critical role in spinal muscular atrophy, and that suppressing this enzyme's activity, could markedly reduce the disease's severity and improve patients' lifestyles.
Feb 18, 2016
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Researchers at UT Southwestern Medical Center have identified synthetic RNA and DNA that reverses the protein deficiency causing Friedreich's ataxia, a neurological disease for which there is currently no cure.
Feb 16, 2016
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Researchers at Iowa State University have found evidence that a "housekeeping" gene present in every cell of the body may have a link to male infertility.
Feb 3, 2016
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Having a child with a severe genetic condition will heavily impact on a parents' decision to have future prenatal testing, according to a new study co-conducted by Plymouth University.
Jan 20, 2016
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A tiny sliver of a person's DNA—several thousand times smaller than a typical gene—produces a molecule that has crucial influence over whether a person has any control over their muscles, according to a paper published ...
Dec 17, 2015
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World-leading research from the University of Aberdeen has made a significant breakthrough in understanding a form of childhood motor neuron disease.
Nov 9, 2015
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