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 …
Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study | Orphanet Journal of Rare Diseases
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis…
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,…
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…
Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services | Orphanet Journal of Rare Diseases
Participant demographics Eighteen participants completed the PAS and IIQ surveys and participated in interviews. Table 1 lists participant…
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…
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,…