NewsBLOODWednesday, April 8, 2026 · April 8, 2026
Polycomb repressive complex 2 insufficiency underlies myeloid leukemia in Down syndrome.
WHY IT MATTERS
Recent peer-reviewed research on Acute megakaryoblastic leukemia that may be relevant for patients and caregivers.
Children with Down syndrome (DS) have an elevated risk of developing myeloid leukemia in DS (ML-DS). In addition to mutations in GATA1, which generate the truncated isoform GATA1-short (GATA1s), ML-DS requires additional somatic gene mutations, most frequently in cohesion and polycomb repressive com...
Related conditions
Related news
Int J Circumpolar Health · -250 days ago
A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation
Published in Int J Circumpolar Health. Hjaltason H et al.…
Ther Adv Rare Dis · -220 days ago
Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy
Published in Ther Adv Rare Dis. Mitha A et al.…
Health Inf Sci Syst · -220 days ago
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy
Published in Health Inf Sci Syst. Zhai W et al.…
Mol Ther Nucleic Acids · -52 days ago
The post-pandemic pivot: mRNA therapeutics enter the chronic rare disease arena
Published in Mol Ther Nucleic Acids. Giangrande PH et al.…