Promising Avenues for the Development of Personalized Treatment for FVII Deficiency

For patients with Factor VII deficiency, approximately 78% of the disease-associated mutations are missense mutations, with no treatment available to directly address the underlying genetic defect. In this Study fra EHA 2024, Maria Eugenia Chollet, Researcher, MD, PhD, Oslo University Hospital, Oslo, Norway, presents the result of using stem cell and organoids technology together with gene editing, to correct a common F VII missense mutation and evaluate the recovery of FVII protein production and function in patient-derived cells.