MeSH tree: C16.320.565.202
Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.
Apr 15, 2026
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Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In ...
Apr 13, 2026
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An Australian-led international research collaboration has delivered a promising breakthrough in the quest to better understand and treat childhood dementia. Recently published in the journal Nature Communications, the study ...
Apr 7, 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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Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T reduces the activity ...
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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Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.
Jan 5, 2026
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A plate of freshly baked cookies, a glass of perfectly garnished eggnog. For many, these images may conjure up warm memories and the anticipation of the forthcoming holiday season.
Dec 4, 2025
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A team of researchers at the Broad Institute, led by gene-editing pioneer David Liu, has developed a new genome-editing strategy that could potentially lead to a one-time treatment for multiple unrelated genetic diseases.
Nov 19, 2025
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