Tag: rare disease
Gene Therapy Restores Muscle Function in Nemaline Myopathy Type 6: New Hope for Rare Genetic Disorder
A new study published in Science Translational Medicine demonstrates that reducing Kbtbd13 gene expression restores muscle function in nemaline myopathy…
A Father’s Fight: How One Family’s Quest Is Reshaping Rare Disease Drug Development
A father's advocacy for his daughter with ultra-rare NGLY1 deficiency is reshaping how experimental gene therapies reach patients when traditional…
Setmelanotide shows promise in treating acquired hypothalamic obesity, new trial demonstrates
A randomized controlled trial published in the New England Journal of Medicine demonstrates that setmelanotide, a melanocortin 4 receptor agonist,…
Automated Genomic Reanalysis Tool Offers Rare Disease Diagnoses at Scale and Low Cost
Researchers have developed Talos, an open-source tool for automating reanalysis of genomic data from patients with rare genetic diseases, enabling…
Monoclonal antibody cliramitug shows sustained benefit in cardiac amyloidosis over 29 months
Long-term follow-up of the NI006-101 trial shows that cliramitug, a monoclonal antibody targeting misfolded transthyretin, sustains clinical benefit in cardiac…
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…