MeSH tree: C18.452.648.398
A study evaluating a pioneering lentivirus (LV)-mediated gene therapy trial for classical Fabry disease showed promising results over five years, indicating a potential breakthrough in treatment for the genetic disorder.
Jul 25, 2025
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Researchers at Tohoku University have discovered that an oral drug called MA-5 can improve both heart and muscle problems in Barth syndrome, a rare genetic disorder affecting 1 in 300,000 births worldwide with no current ...
Jul 1, 2025
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When we hear the word "dementia," we usually think of memory loss in older adults. But there's another, much rarer form of the disease that strikes far earlier in life—childhood dementia, also known as Batten disease.
May 12, 2025
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If administered early, gene therapy has the potential to change the medical history of children born with metachromatic leukodystrophy (MLD), a rare and lethal neurodegenerative disease of genetic origin which leads to the ...
Apr 24, 2025
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An editorial published in Brain Medicine raises the alarm about a previously overlooked threat to brain development and public health: the disruption of sterol biosynthesis by common prescription medications.
Apr 22, 2025
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In a preclinical study, researchers at Children's Hospital of Philadelphia (CHOP) demonstrated a novel gene therapy with potentially increased effectiveness and safety for the treatment of metachromatic leukodystrophy (MLD), ...
Mar 12, 2025
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Hereditary high cholesterol (FH) is the most common hereditary disease and, if left untreated, can lead to atherosclerosis, cardiovascular disease and, in the worst cases, blood clots.
Feb 5, 2025
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In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches—gene therapy and bone marrow transplantation—to alleviate symptoms of multiple sulfatase deficiency (MSD), an ultra-rare ...
Jan 29, 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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The U.S. government's premier research body has made an important discovery that could help create new drugs to lower "bad" cholesterol, and hopefully prevent heart attacks and stroke.
Dec 31, 2024
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