{
  "id": 11006145,
  "title": "Genome-Wide Analysis Identifies BACH2 as Potential Fetal Hemoglobin Activation Target",
  "url": "https://urgent.news/2026/09/30/genome-wide-analysis-identifies-bach2-as-potential-fetal-hemoglobin",
  "topic": "science",
  "section": "Science",
  "published": "2026-09-30T18:48:45.000Z",
  "source": {
    "name": "GEN Biotechnology",
    "slug": "gen-biotechnology",
    "url": "https://www.genengnews.com/topics/omics/genome-wide-analysis-identifies-bach2-as-potential-fetal-hemoglobin-activation-target/"
  },
  "original_language": "en",
  "account": "In a groundbreaking genome-wide meta-analysis, researchers at Boston Children's Hospital and the Broad Institute, led by Vijay G. Sankaran, MD, PhD, have discovered a novel regulatory pathway known as the \"BACH2-NRF2 axis\" that activates fetal hemoglobin (HbF) expression. This pathway, distinct from the well-known BCL11A transcription regulator, has the potential to become a therapeutic target for sickle cell disease (SCD) and thalassemia. The findings are published in the journal Nature. For decades, scientists have been exploring the fetal-to-adult hemoglobin switch as a therapeutic avenue for SCD and thalassemia. BCL11A, identified almost 20 years ago, has been a key regulator of this switch. In their study, Sankaran's team analyzed a vast amount of genome-wide association study (GWAS) data from over 28,000 individuals across European, African, and Asian populations. One of the strongest signals identified a novel regulatory circuit—the BACH2-NRF2 axis—that directly governs γ-globin gene expression. The team discovered that BACH2, a known transcription regulator, reduces expression of BACH2 in erythroid progenitor cells, leading to increased γ-globin transcription and HbF production. They also confirmed that BACH2 functions as a direct repressor at the γ-globin promoter and locus control region LCR, allowing NRF2 to bind and activate γ-globin transcription when BACH2 is lost or inhibited. The study further revealed that the BACH2-NRF2 axis operates independently of BCL11A, suggesting the possibility of combining therapeutic strategies targeting both pathways for SCD and β-thalassemia treatment.",
  "summary": "This pathway, which the authors dub the “BACH2-NRF2 axis,” is independent of the well-known BCL11A transcription regulator, the target of the approved cell therapy Casgevy for sickle cell disease (SCD). The post Genome-Wide Analysis Identifies BACH2 as Potential Fetal Hemoglobin Activation Target appeared first on GEN - Genetic Engineering and Biotechnology News .",
  "key_points": [
    "Researchers identify BACH2-NRF2 axis as fetal hemoglobin activation pathway.",
    "BACH2 represses γ-globin gene expression in erythroid progenitor cells.",
    "BACH2-NRF2 axis operates independently of BCL11A, offering new SCD/β-thalassemia therapies."
  ],
  "editors_take": null,
  "illustration": null,
  "coverage": {
    "outlets": 1,
    "also_reported_by": []
  },
  "ai_generated": true,
  "disclaimer": "Summaries, key points and the editor’s take are written by software from other outlets’ reporting and may contain errors — always check the linked original."
}