MeSH tree: C16.320.322
Muscular dystrophies are a group of diseases in which proteins in the muscles do not function properly, either through inherited or spontaneous mutations. This, in turn, leads to muscle tissue breaking down over time and ...
Jan 22, 2024
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Researchers have found new disrupted genes and an unexpected molecular pattern—dubbed BREACHes—related to fragile X syndrome (FXS), a genetic disorder estimated by the Centers for Disease Control and Prevention to impact ...
Dec 27, 2023
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57
In a Nature Metabolism paper, researchers from the University of Pittsburgh detail a potential new target and a small-molecule drug candidate for treating Barth syndrome, a rare, life-threatening and currently incurable genetic ...
Nov 24, 2023
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Skeletal muscle plays an extremely important role in supporting movement and energy metabolism. However, its function can be impaired by aging and muscle-related diseases, resulting in decreased endurance or strength of skeletal ...
Nov 1, 2023
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The Molecular Neuroscience Unit at the Okinawa Institute of Science and Technology (OIST) has made an important breakthrough by connecting sensory neurons' survival and pathology with the way messenger RNAs (mRNAs) are transported ...
Oct 31, 2023
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84
Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic 'hand-wringing' movements, seizures, and cognitive ...
Oct 30, 2023
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The UK regulatory authorities have approved the first ever trial of a revolutionary gene therapy for young children diagnosed with Hunter syndrome, a devastating rare lysosomal storage disorder.
Oct 30, 2023
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Hundreds of millions of people worldwide suffer from a vision condition called amblyopia, or lazy eye, with imbalanced vision in their two eyes. Unless this disabling condition is caught and treated at a young age, it's rare ...
Oct 17, 2023
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A recent study from the lab of Dr. Jianrong Tang, associate professor at Baylor College of Medicine and principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital ...
Oct 13, 2023
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Fragile X syndrome, the most common form of inherited intellectual disability, may be unfolding in brain cells even before birth, despite typically going undiagnosed until age 3 or later.
Oct 10, 2023
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