MeSH tree: C18.452.132.100
In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his life. But the scientific advances that made the groundbreaking treatment possible were years in the ...
Apr 14, 2026
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Chinese researchers have developed a novel and highly efficient mitochondrial capsule transplantation therapy, achieving the safe and efficient transplantation of healthy mitochondria into cells and tissues for the first ...
Mar 23, 2026
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Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome. This has now been reported in the journal Cell by researchers at Charité—Universitätsmedizin Berlin, ...
Mar 11, 2026
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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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