Gene regulation in erythropoiesis and therapeutic targeting in genetic anemias

My research combines genome editing and red blood cell precursor biology to develop new therapies for genetic anemias, ranging from rare disorders such as α-thalassemia and congenital dyserythropoietic anemias to more prevalent conditions including sickle cell disease and β-thalassemia. I investigate advanced editing strategies, including prime editing, to design universal, mutation-agnostic genome editing approaches. In parallel, I study the transcriptional regulation of erythroid differentiation and ineffective erythropoiesis using technologies such as single-cell RNA sequencing and CRISPR-Cas9 screening, with the goal of identifying therapeutic targets that can be modulated genetically or pharmacologically.

Selected recent publications:

• A prime editing strategy to rewrite the γ-globin promoters and reactivate fetal hemoglobin for sickle cell disease. (2025) A Chalumeau, M Bou Dames, L Fontana, S Amistadi, P Antoniou, P Loganathan,  Mombled, G Corre, M Peterka, M Amendola, C Giovannangeli, M Maresca, A Miccio, M Brusson. Blood. 2025 Nov 27;146(22):2641-2655.doi: 10.1182/blood.2024028166.

• Safety and efficacy studies of CRISPR-Cas9 treatment of sickle cell disease highlights disease-specific responses. (2024) G Frati, M Brusson,  Sartre, B Mlayah, T Felix, A Chalumeau, P Antoniou, G Hardouin, JP Concordet, O Romano, G Turchiano, A Miccio. Mol Ther. 2024 Dec 4;32(12):4337-4352.doi: 10.1016/j.ymthe.2024.07.015. Epub 2024 Jul 22.

• Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies. (2023) M Brusson, A Chalumeau, P Martinucci, O Romano, T Felix, V Poletti, S Scaramuzza, S Ramadier, C Masson, G Ferrari, F Mavilio, M Cavazzana, M Amendola, A Miccio. Mol Ther Nucleic Acids. 2023 Mar 22:32:229-246.doi: 10.1016/j.omtn.2023.03.012. eCollection 2023 Jun 13.

Group members:

Elena Retana, PhD student

Maria Bou Dames, Engineer

Pierre Martinucci, Engineer

Marianna Viezzoli, M2 student