Probing the many benefits of GLP-1 receptor agonists
RESEARCH HIGHLIGHT 05 October 2026 Glucagon-like peptide 1 (GLP-1) receptor agonists are approved for the treatment of type…
Towards mRNA therapeutics 2.0 | Nature Reviews Drug Discovery
Kallen, K.-J. et al. A novel, disruptive vaccination technology: self-adjuvanted RNActive® vaccines. Hum. Vaccin. Immunother. 9, 2263–2276 (2013). Article …
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article PubMed Google Scholar Flume PA,…
Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases
Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33–48. CAS PubMed Google Scholar Carey IM,…
Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases
The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years | Orphanet Journal of Rare Diseases
Literature search and study selection An initial search using the search terms related to the operative technique yielded…
From gene hunter to drug hunter
Howard Chang wasn’t looking for a change from his job at Stanford, where he worked as both a…
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…
Clinical features and rare complications in 132 patients with hepatic glycogenosis | Orphanet Journal of Rare Diseases
The overall incidence of GSDs is approximately 1 case per 20,000–43,000 live births, and 80% of hepatic GSDs…
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases
Clinical findings The patient is the second child of healthy, non-consanguineous parents, who first presented at the age…
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases
Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided information…