Tag: rare disease
First oral drug shows promise in childhood achondroplasia: Phase 3 trial results
A Phase 3 trial published in the New England Journal of Medicine shows that oral infigratinib increases growth velocity by…
Rare Lymphatic-Urinary Fistula Causes Milky Urine in NEJM Case Report
A rare case of chyluria caused by a lymphatic-urinary fistula demonstrates how abnormal anatomical connections can create striking clinical presentations…
Gene Therapy Shows Promise for Inherited Cholesterol Disorder in First-in-Human Trial
First-in-human gene therapy trial shows preliminary safety and efficacy for treating homozygous familial hypercholesterolemia, a rare inherited cholesterol disorder. Three…
SERPINA12 Gene Mutations Identified as New Cause of Hereditary Palmoplantar Keratoderma
Researchers identify SERPINA12 gene mutations as a novel cause of hereditary palmoplantar keratoderma. The discovery expands genetic testing options for…
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