MeSH tree: C18.452.132.100
Virginia Tech researchers have discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings are published in EMBO Molecular Medicine.
Jan 28, 2026
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The U.S. Food and Drug Administration has approved the Zycubo (copper histidinate) injection as the first treatment for Menkes disease in pediatric patients. Approval of Zycubo was granted to Sentynl Therapeutics.
Jan 21, 2026
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A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according to findings published in Nature Communications.
Jan 15, 2026
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Scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two harmful variants of the same gene always worsens disease. Instead, the team found that in many ...
Jan 12, 2026
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A new study from Karolinska University Hospital and Karolinska Institutet in collaboration with Uppsala University Hospital and Uppsala University shows suspected small vessel disease in young patients with Wilson's disease. ...
Jan 7, 2026
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Some brain disorders are straightforward, such as the direct frontal lobe assault of a concussion or traumatic brain injury. Others, like Alexander disease, are akin to guerrilla warfare. Patients suffering from this genetic ...
Dec 1, 2025
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In 1962, a pediatric neurology resident at Columbia's Neurological Institute and his colleagues in the College of Physicians and Surgeons published a detailed paper in Pediatrics describing a new syndrome of neurodegeneration ...
Oct 30, 2025
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A team led by the UAB Institut de Neurociències (INc-UAB) has for the first time identified the mechanism behind a potentially fatal type of epilepsy, a symptom of mitochondrial diseases. The discovery, based on mouse models, ...
Oct 27, 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 ...
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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