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…
Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty | Orphanet Journal of Rare Diseases
Debuf MJ, Benoit V, Cassart M, Gajewska K, Gauquier N, Meunier C, et al. Agenesis of olfactory bulbs:…
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,…
Synthetic lethality in cancer drug discovery: challenges and opportunities
Hartwell, L. H., Szankasi, P., Roberts, C. J., Murray, A. W. & Friend, S. H. Integrating genetic approaches…
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…
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,…