Vivien Sheehan

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

This paper engineers hematopoietic stem and progenitor cells to express CD4 on red blood cells, creating viral traps to neutralize HIV-1.

This paper develops a combinatorial base editing strategy to enhance erythroid lineage amplification and disease correction in hematopoietic stem and progenitor cells.

The paper uses human genetics and CRISPR/Cas9 to recreate a naturally occurring mutation that increases red blood cell production and shows its combination with a beta-thalassemia correction strategy enhances RBC development.

This study validates a single-gene non-invasive prenatal test (NIPT) for sickle cell disease and beta thalassemia, showing 100% concordance with newborn screening in 79 pregnancies.

This study replaces the HBA1 gene with HBB in β-thalassemia-derived HSPCs using CRISPR, normalizing globin ratios and restoring functional hemoglobin.

This paper introduces a high-throughput molecular counting method with single base-pair resolution for accurate single-gene NIPT, achieving high sensitivity and specificity in detecting genetic disorders.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.