The promise and challenge of therapeutic genome editing

JA Doudna - Nature, 2020‏ - nature.com
Genome editing, which involves the precise manipulation of cellular DNA sequences to alter
cell fates and organism traits, has the potential to both improve our understanding of human …

Gene therapy using haematopoietic stem and progenitor cells

G Ferrari, AJ Thrasher, A Aiuti - Nature Reviews Genetics, 2021‏ - nature.com
Haematopoietic stem and progenitor cell (HSPC) gene therapy has emerged as an effective
treatment modality for monogenic disorders of the blood system such as primary …

Potent and uniform fetal hemoglobin induction via base editing

T Mayuranathan, GA Newby, R Feng, Y Yao… - Nature …, 2023‏ - nature.com
Inducing fetal hemoglobin (HbF) in red blood cells can alleviate β-thalassemia and sickle
cell disease. We compared five strategies in CD34+ hematopoietic stem and progenitor …

[HTML][HTML] Massively parallel base editing to map variant effects in human hematopoiesis

JD Martin-Rufino, N Castano, M Pang, EI Grody… - Cell, 2023‏ - cell.com
Systematic evaluation of the impact of genetic variants is critical for the study and treatment
of human physiology and disease. While specific mutations can be introduced by genome …

Highly efficient therapeutic gene editing of human hematopoietic stem cells

Y Wu, J Zeng, BP Roscoe, P Liu, Q Yao… - Nature medicine, 2019‏ - nature.com
Re-expression of the paralogous γ-globin genes (HBG1/2) could be a universal strategy to
ameliorate the severe β-globin disorders sickle cell disease (SCD) and β-thalassemia by …

Dual base editor catalyzes both cytosine and adenine base conversions in human cells

X Zhang, B Zhu, L Chen, L **e, W Yu, Y Wang… - Nature …, 2020‏ - nature.com
Although base editors are useful tools for precise genome editing, current base editors can
only convert either adenines or cytosines. We developed a dual adenine and cytosine base …

Recent advances in the treatment of sickle cell disease

G Salinas Cisneros, SL Thein - Frontiers in physiology, 2020‏ - frontiersin.org
Sickle cell anemia (SCA) was first described in the Western literature more than 100 years
ago. Elucidation of its molecular basis prompted numerous biochemical and genetic studies …

The vaso‐occlusive pain crisis in sickle cell disease: definition, pathophysiology, and management

DS Darbari, VA Sheehan… - European journal of …, 2020‏ - Wiley Online Library
Early diagnosis, treatment, and prevention of a vaso‐occlusive crisis (VOC) are critical to the
management of patients with sickle cell disease. It is essential to differentiate between VOC …

Genome editing of HBG1 and HBG2 to induce fetal hemoglobin

JY Métais, PA Doerfler, T Mayuranathan… - Blood …, 2019‏ - ashpublications.org
Induction of fetal hemoglobin (HbF) via clustered regularly interspaced short palindromic
repeats/Cas9–mediated disruption of DNA regulatory elements that repress γ-globin gene …

HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription

P Huang, SA Peslak, R Ren, E Khandros, K Qin… - Nature …, 2022‏ - nature.com
The fetal-to-adult switch in hemoglobin production is a model of developmental gene control
with relevance to the treatment of hemoglobinopathies. The expression of transcription factor …