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Related Concept Videos

Gene Therapy00:59

Gene Therapy

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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...
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Targeted Cancer Therapies02:57

Targeted Cancer Therapies

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The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
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In-vitro Mutagenesis01:16

In-vitro Mutagenesis

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To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
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AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial.

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Related Experiment Video

Updated: Mar 15, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Gene therapy for metachromatic leukodystrophy.

Jonathan B Rosenberg1, Stephen M Kaminsky1, Patrick Aubourg2

  • 1Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.

Journal of Neuroscience Research
|September 18, 2016
PubMed
Summary
This summary is machine-generated.

Gene therapy offers a promising treatment for leukodystrophies (LDs), rare genetic neurological disorders. Adeno-associated virus gene therapy, specifically with AAVrh.10, shows potential for effective and safe treatment of metachromatic leukodystrophy (MLD).

Keywords:
adeno-associated virusclinical developmentclinical translationgene therapymetachromatic leukodystrophy

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Area of Science:

  • Neurology
  • Genetics
  • Biomedical Engineering

Background:

  • Leukodystrophies (LDs) are rare genetic neurological disorders lacking specific treatments.
  • Metachromatic leukodystrophy (MLD) serves as a model to explore therapeutic strategies for LDs.

Purpose of the Study:

  • To review therapeutic approaches for MLD tested in preclinical and clinical settings.
  • To highlight gene therapy as an optimal strategy for LDs, particularly MLD.
  • To present preclinical data supporting AAVrh.10 gene therapy for MLD.

Main Methods:

  • Review of existing literature on MLD therapies, including enzyme-replacement, stem cell transplants, and gene therapy.
  • Analysis of preclinical data for adeno-associated virus (AAV) gene therapy, focusing on the AAVrh.10 serotype.
  • Evaluation of therapeutic requirements for sustained gene expression in the central nervous system (CNS).

Main Results:

  • Current MLD therapies have limitations in providing persistent, high-level gene expression in the CNS.
  • Gene therapy, particularly using adeno-associated viruses (AAVs), demonstrates a favorable balance of efficacy and safety.
  • Preclinical data support AAVrh.10 gene therapy as a viable clinical approach for MLD.

Conclusions:

  • Effective MLD therapy necessitates persistent and high-level expression of the deficient gene (arylsulfatase A) in the CNS.
  • AAV-mediated gene therapy is the most promising approach for MLD and potentially other LDs like Krabbe disease.
  • AAVrh.10 gene therapy warrants further clinical development for MLD treatment.