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Gene Therapy

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 Therapy

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...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...

CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...

What is Genetic Engineering?

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Related Experiment Video

Updated: May 10, 2026

Constitutive and Inducible Systems for Genetic In Vivo Modification of Mouse Hepatocytes Using Hydrodynamic Tail Vein Injection

Constitutive and Inducible Systems for Genetic In Vivo Modification of Mouse Hepatocytes Using Hydrodynamic Tail Vein Injection

Published on: February 2, 2018

Gene therapy for hemophilia.

M K Chuah¹, H Evens, T VandenDriessche

¹Department of Gene Therapy & Regenerative Medicine, Free University of Brussels (VUB), Brussels, Belgium.

Journal of Thrombosis and Haemostasis : JTH

|July 2, 2013

Summary

Gene therapy offers a promising path toward a hemophilia cure, with adeno-associated virus (AAV) vectors showing potential in clinical trials for hemophilia A and B. However, challenges like insufficient factor levels and immune responses require further research for a complete cure.

Keywords:

adeno-associated virus factor IX factor VIII gene therapy hemophilia lentiviral

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Last Updated: May 10, 2026

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Area of Science:

Hematology
Genetics
Gene Therapy

Background:

Hemophilia A and B are X-linked disorders caused by deficiencies in clotting factors VIII and IX.
Current treatments involve factor replacement, which is not curative.
Gene therapy aims for sustained clotting factor expression to correct the hemophilia phenotype.

Purpose of the Study:

To review the development and progress of gene-based therapies for hemophilia.
To evaluate the efficacy and challenges of viral vectors, particularly AAV, in hemophilia gene therapy.
To identify future directions for achieving a definitive cure for hemophilia.

Main Methods:

Exploration of various viral and non-viral gene delivery systems over two decades.
Investigation of target cells including hepatocytes, hematopoietic stem cells, skeletal muscle, and endothelial cells.
Preclinical studies in animal models and clinical translation using adeno-associated virus (AAV) vectors.

Main Results:

Preclinical models showed successful correction of the bleeding phenotype using lentiviral and AAV vectors.
Clinical trials with AAV vectors demonstrated long-term expression of therapeutic Factor IX levels in hemophilia patients.
Therapeutic levels were insufficient to fully prevent bleeding episodes, and immune responses against AAV vectors were observed.

Conclusions:

Gene therapy, particularly with AAV vectors, represents a significant advancement in hemophilia treatment.
Further improvements are necessary to enhance therapeutic factor levels and overcome immune-related challenges.
Continued research is crucial to establish a curative gene therapy for hemophilia.