Assessing efficacy and safety of genome EDITing approaches for Sickle Cell Disease

Sickle cell Disease (SCD) is a monogenic disease characterized by a mutation, A>T, in the β-globin encoding HBB gene that causes the substitution of valine for glutamic acid at position 6 of the β-globin chain (βS) which is responsible for deoxygenation-induced polymerization of sickle haemoglobin (HbS). This primary event drives red blood cell sickling, hemolysis, vaso-occlusive crises and multi-organ damage, often associated with severely reduced life expectancy. 

The project, Assessing efficacy and safety of genome EDITing approaches for Sickle Cell Disease (EDITSCD), aims to evaluate the genome editing strategies on autologous human hematopoietic stem cell (hHSPC) to revert the sickling phenotype in the RBC progeny. The results of this project will establish the basis for pre-clinical studies of the most frequent monogenic disease that constitutes a global health problem, more than 330,000 SCD infants are born worldwide every year.

The EDITSCD consortium is formed by 8 partners from 7 Member States, among them 2 ERN-EuroBloodNet Members*:

1. Imagine Institut des Maladies Genetiques Necker Enfants Malades Fondation (IMA), France
2. Ospedale San Raffaele SRL (OSR)*, Italy
3. Universitaetsklinikum Freiburg (UKLFR)*, Germany
4. Bar Ilan University (BIU), Israel
5. Institut National de la Sante et de la Recherche Medicale (INSERM), France
6. Astrazeneca AB (AZ), Sweden
7. EATRIS ERIC (EATRIS), The Netherlands
8. Eidgenössische Technische Hochschule Zürich (ETHZ), Switzerland

The 5 years of duration of this project count on the endorsement and collaboration of the ERN-EuroBloodNet.