The bias in medical research: Africa carries a huge disease burden but is missing from clinical trials
Modern medicine prides itself on being a universal science, built on evidence from clinical trials.
May 4, 2026
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Metabolism, Inborn Errors
MeSH tree: C16.320.565
For 30 years, doctors chased the wrong immune culprit behind this rare inflammatory disease
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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Global survey reveals significant burden and inconsistent management of rare metabolic bone disorder in adults
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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Sweet discovery rewrites understanding of how our bodies store sugar
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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AI screening in brain organoids uncovers two drug candidates for Leigh syndrome
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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Millions of US birth records uncover an autism risk surge tied to common drugs taken during pregnancy
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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RNA sequencing platform unlocks rare disease diagnoses missed by standard tests
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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Base editing repairs mutation and liver function in mouse model of Zellweger spectrum disorder
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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Newly identified RPN1 disease helps explain how protein damage can disrupt early brain development
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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Expanding the fight against heart disease: Q&A with specialist who welcomes shift to more aggressive recommendations
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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