MeSH tree: C18.452.648
WEHI researchers have discovered a never-before-seen mechanism our bodies use to regulate sugar, in findings that rewrite the fundamental rules of biology and open a new frontier in science. Published in Nature, the study ...
Apr 24, 2026
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The need for medical treatments for rare diseases such as Leigh syndrome is high. However, low patient numbers make research into treatments difficult. Together with a team from the University of Luxembourg, researchers from ...
Apr 20, 2026
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A landmark study led by researchers at the University of Nebraska Medical Center (UNMC) and published in Molecular Psychiatry has identified a significant association between prenatal prescription of commonly utilized medications ...
Apr 20, 2026
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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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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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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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U.S. medical organizations are looking to reduce deaths caused by heart disease, the nation's No. 1 killer, with new guidelines that reframe prevention as a lifelong battle that begins with testing in childhood.
Apr 11, 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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A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. ...
Mar 30, 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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