Gene Therapy for Hemoglobinopathies Presentation (PPT & PDF)

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The Gene Therapy for Hemoglobinopathies Presentation provides an overview of hemoglobinopathies, which are genetic disorders caused by abnormal hemoglobin production, including sickle cell disease and thalassemia. It highlights that:

• these disorders are monogenic, affecting hemoglobin’s structure (qualitative) or quantity (quantitative).
• Clinical symptoms and types of hemoglobinopathies are discussed.
• Treatment options include regular blood transfusions, iron chelation therapy, and hematopoietic stem cell transplantation (HSCT), although challenges such as donor availability and complications like graft-versus-host disease are noted.

The Presentation emphasizes the potential of gene therapy as a curative strategy for hemoglobinopathies. Gene therapy involves delivering therapeutic genes into patients’ cells using vectors, but it has challenges such as targeted delivery, immune response management, and high costs associated with this treatment.

Additionally, advancements in gene editing tools like CRISPR-Cas9 are addressed. These tools allow for precise modifications of genes to treat hemoglobinopathies effectively. Overall, the document presents a comprehensive examination of the diagnosis, treatment options, and advancements in gene therapy related to hemoglobinopathies.

Reference:

1. Leonard A, Bertaina A, Bonfim C, Cohen S, Prockop S, Purtill D, et al. Curative therapy for hemoglobinopathies: an International Society for Cell & Gene Therapy Stem Cell Engineering Committee review comparing outcomes, accessibility and cost of ex vivo stem cell gene therapy versus allogeneic hematopoietic stem cell transplantation. Cytotherapy. 2022;24(3):249-61
2. Qiu H-Y, Ji R-J, Zhang Y. Current advances of CRISPR-Cas technology in cell therapy. Cell Insight. 2022:100067.
3. Rosanwo TO, Bauer DE. Editing outside the body: Ex vivo gene-modification for β-hemoglobinopathy cellular therapy. Molecular Therapy. 2021;29(11):3163-78.
4. Kountouris P, Stephanou C, Archer NM, Bonifazi F, Giannuzzi V, Kuo KHM, et al. The International Hemoglobinopathy Research Network (INHERENT): An International Initiative to Study the Role of Genetic Modifiers in Hemoglobinopathies. Blood. 2021;138:948.
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7. Sabath DE. Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review. Am J Clin Pathol. 2017;148(1):6-15.
8. Dever DP, Bak RO, Reinisch A, Camarena J, Washington G, Nicolas CE, et al. CRISPR/Cas9 β-globin gene targeting in human hematopoietic stem cells. Nature. 2016;539(7629):384-9.
9. https://www.yourgenome.org/facts/what-is-gene-therapy/
10.  https://www.osmosis.org/learn/Knowledge_Shot:_CRISPR-Cas9_and_the_age_of_gene-edited_humans