Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that
Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter's gravesite.
Apr 27, 2025
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Genetic Diseases, X-Linked
MeSH tree: C16.320.322
Scientists achieve record-breaking growth in miniature, functional liver models
The liver is the body's control tower for metabolism, powering vital functions like converting nutrients to glucose, storing fat and breaking down toxins. Over a third of the world, however, is thought to be affected by conditions ...
Apr 16, 2025
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Setback in gene therapy for Duchenne muscular dystrophy as immune system emerges as key barrier
A new paper published in Gene Therapy raises serious concerns about the effectiveness of gene therapy for Duchenne muscular dystrophy (DMD), after the treatment failed to show significant benefit in a large-scale clinical ...
Apr 8, 2025
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A failed fragile X syndrome drug can reduce cocaine use, clinical trial finds
A team of pharmaceutical researchers at Novartis Biomedical Research, working with an international team of associates, has found that the drug mavoglurant can reduce use in people with cocaine use disorder. In their study, ...
FDA approves Qfitlia to cut bleeding episodes in patients with hemophilia
The U.S. Food and Drug Administration has approved Sanofi's Qfitlia (fitusiran) for routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients 12 years of age and older with ...
Apr 3, 2025
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Duchenne muscular dystrophy's impact on the brain may be reversible
New research led by the University of Portsmouth has revealed how Duchenne muscular dystrophy (DMD), best known for causing severe muscle degeneration, also profoundly affects the brain, leading to cognitive and behavioral ...
Mar 28, 2025
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New protein target identified for muscle repair and regeneration
For millions of people, losing muscle isn't just about weakness; it's about losing independence. Whether caused by Duchenne muscular dystrophy, aging or other degenerative conditions, muscle loss can make everyday activities—like ...
Mar 26, 2025
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Sarepta's gene therapy under scrutiny after patient death
A patient has died while receiving Elevidys, a gene therapy for Duchenne muscular dystrophy, marking the first known death linked to the treatment.
Mar 19, 2025
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Patient dies following muscular dystrophy gene therapy, Sarepta reports
Sarepta Therapeutics said Tuesday that a patient died while taking its closely watched gene therapy for muscular dystrophy, sending company shares plummeting more than 25%.
Mar 18, 2025
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Autophagy malfunction study moves a step closer to understanding Rett syndrome
Rett syndrome is a rare genetic disease affecting 1 in 10,000 newborn girls, characterized by sudden regression around 1 year of age, with loss of acquired language and motor skills and leading to profound cognitive impairment. ...
Feb 20, 2025
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