Gene Therapy and Gene Editing
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Scientific Literature
Defining Curative Endpoints for Transfusion-Dependent β-Thalassemia in the Era of Gene Therapy and Gene Editing
β-thalassemia is a monogenic disease that results in varying degrees of anemia. In the most severe form, known as transfusion-dependent β-thalassemia (TDT), the clinical hallmarks are ineffective erythropoiesis and a…
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Scientific Literature
The Italian Breakthrough in CRISPR trials for Rare Diseases: A focus on β-Thalassemia and Sickle Cell Disease Treatment
The development of gene therapy and the current advantageous method of clustered regularly interspaced short palindromic repeats (CRISPRs) has allowed the implementation of several clinical trials aimed at studying the…
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Scientific Literature
Juggling Between the Cost and Value of New Therapies: Does Science Still Serve Patient Needs?
Thalassaemia International Federation (TIF), representing the united voice of people with thalassaemia and their families globally, has been striving for more than three decades to empower research, by academic communities…
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Scientific Literature
Pharmacological Induction of Fetal Hemoglobin in β-Thalassemia and Sickle Cell Disease: An Updated Perspective
A significant amount of attention has recently been devoted to the mechanisms involved in hemoglobin (Hb) switching, as it has previously been established that the induction of fetal hemoglobin (HbF)…
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Scientific Literature
Economic Evaluation of Betibeglogene Autotemcel (Beti-cel) Gene Addition Therapy in Transfusion-Dependent β-Thalassemia
Background: Standard of care (SoC) for transfusion-dependent β-thalassemia (TDT) requires lifelong, regular blood transfusions as well as chelation to reduce iron accumulation. Objective: This study investigates the cost-effectiveness of betibeglogene…
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Scientific Literature
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia
Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression and fetal hemoglobin…
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Scientific Literature
Gene Therapy of the Hemoglobinopathies
Sickle cell disease and the ß-thalassemias are caused by mutations of the ß-globin gene and represent the most frequent single gene disorders worldwide. Even in European countries with a previous…
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Scientific Literature
Editing a γ-Globin Repressor Binding Site Restores Fetal Hemoglobin Synthesis and Corrects the Phenotype of Sickle Cell Disease Erythrocytes
Sickle cell disease (SCD) is caused by a single amino acid change in the adult hemoglobin (Hb) β-chain that causes Hb polymerization and red blood cell (RBC) sickling. The co-inheritance…
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Scientific Literature
Innovative Curative Treatment of Beta-Thalassemia: Cost-efficacy Analysis of Gene Therapy Versus Allogenic Hematopoietic Stem Cell Transplantation
Seventy-five percent of patients with beta thalassemia (β-thalassemia) do not have human leukocyte antigen–matched siblings and until recently had no access to a curative treatment. Gene therapy is a promising…
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Scientific Literature
Intrabone Hematopoietic Stem Cell Gene Therapy for Adult and Pediatric Patients Affected by Transfusion-dependent ß-Thalassemia
ß-thalassemia is caused by ß-globin gene mutations resulting in reduced (β+) or absent (β0) hemoglobin production. Patient life expectancy has recently increased, but the need for chronic transfusions in transfusion-dependent…
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