A high-quality reference catalogue of the genetic changes that result in the deactivation of human genes has been developed by a team of researchers. This catalogue of loss-of-function (LoF) variants is needed to find new ...
Feb 16, 2012
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The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
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In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked ...
May 7, 2021
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More than a billion people around the globe need assistive technology to go about everyday tasks independently. A new artificial intelligence (AI) wheelchair is taking assistive technology a step further and giving people ...
Jul 17, 2023
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An experimental drug designed to fit a DNA patch in a flawed gene has cleared an important hurdle in tests on boys struck by a tragic muscle-wasting disease, a British study on Monday says.
Jul 25, 2011
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A team of medical researchers affiliated with a host of institutions in the U.S. has used base editing to restore the natural production of the SMN protein in mice, effectively curing spinal muscular atrophy (SMA) in the ...
'Organoids' that mimic the developing spinal cord could assist research and drug development for neurodegenerative diseases such as spinal muscular atrophy and amyotrophic lateral sclerosis.
Mar 18, 2019
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Muscular strength and its improvement are important to everyone for their regular day-to-day life activities. Conventionally, muscle function can be assessed by means of physical performance tests and/or muscle strength measurements. ...
Oct 12, 2022
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Stem cells from patients with a rare form of muscular dystrophy have been successfully transplanted into mice affected by the same form of dystrophy, according to a new study published today in Science Translational Medicine.
Jun 27, 2012
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A discovery by Washington State University scientist Dan Rodgers and collaborator Paul Gregorevic could save millions of people suffering from muscle wasting disease.
Jul 27, 2016
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