MeSH tree: C16.320.322
Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, the most common genetically-caused ...
Feb 20, 2025
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Duchenne muscular dystrophy (DMD) is a rare hereditary disease that is associated with progressive muscle wasting. The disease is chronic and begins in childhood. The life expectancy of affected patients is significantly ...
Feb 12, 2025
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Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the use of personalized antisense oligonucleotides (ASOs). This innovative approach has shown promising ...
Jan 24, 2025
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Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published in the journal Nature. Unstable proteins ...
Jan 8, 2025
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A new study has shed light on the complex interactions between dystrophin, a protein critical to muscle stability, and its partner protein, dystrobrevin, offering new pathways for understanding and treating Duchenne Muscular ...
Jan 2, 2025
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A new gene editing tool that helps cellular machinery skip parts of genes responsible for diseases has been applied to reduce the formation of amyloid-beta plaque precursors in a mouse model of Alzheimer's disease, researchers ...
Dec 23, 2024
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A novel drug holds promise for treating Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes severe muscle degeneration.
Dec 16, 2024
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Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have gained new insights into the molecular changes leading ...
Dec 16, 2024
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Researchers at The Ottawa Hospital and the University of Ottawa have discovered an 18-digit code that allows proteins to attach themselves to exosomes—tiny pinched-off pieces of cells that travel around the body and deliver ...
Dec 11, 2024
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A firm handshake between proteins on immune cells is important for the body's ability to fight infection. Meanwhile, a weak grip helps explain the poor immune deficiencies caused by a rare genetic disorder.
Dec 10, 2024
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