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Related Concept Videos

Gene Therapy00:59

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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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Related Experiment Video

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Chemogenetic Regulation in Reprogrammed Stem Cell-derived Precursor Cells in Treating Neurodegenerative Diseases
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Chemogenetic Regulation in Reprogrammed Stem Cell-derived Precursor Cells in Treating Neurodegenerative Diseases

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Gene Transfer Therapy for Neurodevelopmental Disorders.

Can Ozlu1, Rachel M Bailey1,2, Sarah Sinnett1,3

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Developmental Neuroscience
|April 21, 2021
PubMed
Summary

Gene therapy using adeno-associated viruses (AAVs) offers new hope for treating genetic neurodevelopmental disorders (NDDs). This review explores AAV advantages, challenges, and applications for conditions like Rett syndrome and fragile X syndrome.

Keywords:
Angelman syndromeFragile X syndromeGene therapyNeurodevelopmental disorderRett syndromeSLC13A5SLC6A1

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Neurodevelopmental disorders (NDDs) encompass a range of conditions affecting brain development, often with a genetic basis.
  • While symptomatic treatments exist, they do not address the underlying genetic causes of NDDs.
  • Gene therapy, particularly using adeno-associated viruses (AAVs), presents a promising therapeutic avenue for genetic NDDs.

Purpose of the Study:

  • To review the advantages and challenges of adeno-associated virus (AAV) gene therapies for neurodevelopmental disorders (NDDs).
  • To examine the potential applications of AAV gene therapy for specific NDDs, including common and rare genetic conditions.
  • To discuss the current state of preclinical studies and natural history data for targeted NDDs.

Main Methods:

  • Literature review focusing on adeno-associated virus (AAV) gene therapy research.
  • Analysis of preclinical studies and natural history data for selected neurodevelopmental disorders (NDDs).
  • Discussion of the unique benefits and hurdles associated with AAV-based gene therapies.

Main Results:

  • Adeno-associated virus (AAV) vectors offer a viable in vivo approach for gene replacement in genetic neurodevelopmental disorders (NDDs).
  • Gene therapy holds significant potential for treating conditions such as Rett syndrome, fragile X syndrome, Angelman syndrome, SLC13A5 deficiency, and SLC6A1-related disorder.
  • The review highlights the ongoing progress and future prospects of AAV gene therapies in preclinical research.

Conclusions:

  • Adeno-associated virus (AAV) gene therapy represents a transformative approach for addressing the root causes of genetic neurodevelopmental disorders (NDDs).
  • Further research and development in AAV gene therapy are crucial for alleviating the lifelong burden of NDDs on individuals and families.
  • The review underscores the critical importance of advancing AAV gene therapies for a range of NDDs.