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Related Concept Videos

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Hemoglobin01:24

Hemoglobin

Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
Role of Hematopoietic Growth Factors01:28

Role of Hematopoietic Growth Factors

Hematopoietic growth factors are molecules that regulate the differentiation rate of hematopoietic stem cells (HSCs). Erythropoietin (EPO), primarily produced by the kidneys, plays a crucial role in erythrocyte production. When oxygen levels in the blood are low, EPO is released into the bloodstream, reaching the bone marrow, where it stimulates HSCs to differentiate and mature into erythrocytes, which are vital for oxygen transport.
Thrombopoietin (TPO), mainly released by the liver,...
Erythropoiesis01:14

Erythropoiesis

Red blood cells  (RBCs) transport oxygen to all body tissues. These cells survive only for 120 days and then need to be replenished. Erythropoiesis is the process of RBC production. In healthy individuals, erythropoiesis ensures all tissues are amply supplied with oxygen. In addition, blood loss due to injury leads to a drop in the physiological oxygen level that will cause erythropoiesis. Any defect in erythropoiesis leads to several physiological disorders, including thalassemia, anemia, and...
Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.

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CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications
08:32

CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications

Published on: August 9, 2022

Gene therapy for hemoglobinopathies: progress and challenges.

Alisa Dong1, Stefano Rivella, Laura Breda

  • 1Weill Cornell Medical College, Department of Pediatrics, Division of Hematology-Oncology, New York, NY 10021, USA.

Translational Research : the Journal of Laboratory and Clinical Medicine
|January 23, 2013
PubMed
Summary
This summary is machine-generated.

Gene therapy offers a potential cure for hemoglobinopathies like sickle cell disease (SCD) and thalassemia by restoring hemoglobin function. Lentiviral vectors show promise, with ongoing clinical trials and future directions including iPSCs and safer gene insertion.

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Area of Science:

  • Hematology
  • Genetic Medicine
  • Gene Therapy

Background:

  • Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia, are inherited disorders caused by defective hemoglobin (Hb) protein.
  • Current treatments like transfusions and iron chelation manage symptoms but do not offer a cure.
  • Allogeneic bone marrow transplantation is curative but limited by donor availability and graft-versus-host disease.

Purpose of the Study:

  • To review lentiviral gene therapy approaches for hemoglobinopathies.
  • To discuss current and planned clinical trials.
  • To identify hurdles and future perspectives for gene therapy in treating these conditions.

Main Methods:

  • Review of lentiviral vector development and application in animal models and human cells for hemoglobinopathies.
  • Analysis of data from ongoing and planned clinical trials.
  • Discussion of challenges such as myeloablation, insertional oncogenesis, and vector expression.

Main Results:

  • Lentiviral vectors have shown curative potential in preclinical models of SCD and thalassemia.
  • One patient has been successfully treated with gene therapy, indicating clinical feasibility.
  • Key areas for improvement include globin gene stoichiometry, donor cell sourcing (e.g., iPSCs), and safer gene insertion.

Conclusions:

  • Gene therapy, particularly using lentiviral vectors, represents a promising curative strategy for hemoglobinopathies.
  • Overcoming challenges like toxicity, oncogenesis, and optimizing vector expression is crucial for broader clinical application.
  • Future advancements involving induced pluripotent stem cells (iPSCs) and safe harbor technologies hold significant potential.