MeSH tree: C18.452.648.202.715
Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.
Jan 5, 2026
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A team of researchers at the Broad Institute, led by gene-editing pioneer David Liu, has developed a new genome-editing strategy that could potentially lead to a one-time treatment for multiple unrelated genetic diseases.
Nov 19, 2025
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Researchers at Washington University School of Medicine in St. Louis have described the neurodegeneration that occurs in the nervous system of the bowel in Batten disease, a rare and fatal genetic condition. In their latest ...
Jan 15, 2025
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A computational model built by researchers at the Institute of Research in Biomedicine (IRB Barcelona) and the Centre for Genomic Regulation (CRG) can predict which drugs will be most effective in treating diseases caused ...
Aug 22, 2024
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As a neurodegenerative disease characterized by childhood onset dementia, Sanfilippo syndrome causes immense suffering in many ways, including pain, loss of speech, extreme agitation, and distress, gastrointestinal symptoms, ...
Jun 21, 2024
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For the first time, a team co-led by CHU Sainte-Justine researcher and professor in the Faculty of Medicine at Université de Montréal, Alexey Pshezhetsky has succeeded in resolving the unique structure of the HGSNAT enzyme, ...
May 27, 2024
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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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When people think about Alzheimer's disease, they usually associate it with seniors who have had a long and fulfilling life.
Jun 21, 2023
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Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric ...
May 10, 2023
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