MeSH tree: C18.452.584.563
Batten disease is a rare inherited condition that affects brain development and function. CLN3 disease is the most common type of this disease. The symptoms are life-changing. They usually begin between the ages of four and ...
Nov 6, 2025
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An international team led by a University of Pittsburgh School of Medicine scientist has created a first-of-its-kind resource to identify those with a genetic risk for elevated "bad" cholesterol—a major contributor to heart ...
Oct 30, 2025
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The U.S. Food and Drug Administration has granted accelerated approval to Forzinity (elamipretide) injection as the first treatment for Barth syndrome.
Sep 25, 2025
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Researchers at The Hospital for Sick Children (SickKids) have uncovered a promising new therapeutic target for Barth syndrome, a rare genetic condition with no current cure.
Sep 3, 2025
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An evolving form of therapy to treat devastating neurodegenerative disorders by injecting fresh immune cells—microglia—directly into the brain, promises a new lease on health by slowing the progression of mind-robbing conditions.
A collaboration among Rice University, Baylor College of Medicine and Texas Children's Hospital's Jan and Dan Duncan Neurological Research Institute (NRI) has produced a breakthrough in how to study and classify complex diseases.
Aug 20, 2025
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Patients in a Phase I/II clinical trial conducted by UMass Chan Medical School of a dual vector gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases, exhibited a biochemical correction of the ...
Aug 15, 2025
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Tay-Sachs and Sandhoff diseases, genetic disorders affecting the brain, have no effective treatment and are typically fatal within the first years of life.
Aug 6, 2025
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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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