Pharmacology/Toxicology - New Zealand News Beep

Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study | Orphanet Journal of Rare Diseases

November 5, 2025

Patient characteristics Overall, 626 people living with achondroplasia were matched with 3,130 people in the control cohort (Fig. 1).…

HHealth

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

October 27, 2025

We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we…

HHealth

A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases

October 17, 2025

Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes.…

GGenetics

Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases

October 15, 2025

O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article PubMed Google Scholar Flume PA,…

GGenetics

Synthetic lethality in cancer drug discovery: challenges and opportunities

September 11, 2025

Hartwell, L. H., Szankasi, P., Roberts, C. J., Murray, A. W. & Friend, S. H. Integrating genetic approaches…