MeSH tree: C18.452.648
Inside every human cell, proteins are constantly being tagged with small chemical modifications after they're produced. Known as post-translational modifications, or PTMs, these can change how a protein folds, where it travels ...
May 6, 2026
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Modern medicine prides itself on being a universal science, built on evidence from clinical trials.
May 4, 2026
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Researchers at the Garvan Institute of Medical Research have uncovered a critical mechanism driving inflammation in mevalonate kinase deficiency (MKD), a rare but devastating autoinflammatory disorder. The study, published ...
Apr 30, 2026
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A new international survey led by the International Osteoporosis Foundation reveals that adults living with hypophosphatemic osteomalacia (HO), a rare metabolic bone disorder, face a substantial and often under-recognized ...
Apr 25, 2026
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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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