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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...
Karyotyping01:17

Karyotyping

Overview
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
What is Genetic Engineering?00:49

What is Genetic Engineering?

Overview

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Related Experiment Video

Updated: May 22, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

Gene therapy for Down syndrome.

Cristina Fillat1, Xavier Altafaj

  • 1Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. cfillat@clinic.ub.es

Progress in Brain Research
|May 1, 2012
PubMed
Summary

Down syndrome (DS) involves extra chromosome 21 (HSA21) genes, causing widespread gene dysregulation and abnormal phenotypes. Gene therapy approaches aim to normalize gene expression and correct DS-related alterations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Down syndrome (DS) is characterized by trisomy of chromosome 21 (HSA21), leading to a 30-50% gene dosage imbalance.
  • This imbalance causes overexpression of HSA21 genes, dysregulation of non-HSA21 genes, and altered microRNA (miRNA) activity.
  • Epigenetic modifications further contribute to complex transcriptional and posttranscriptional alterations in DS.

Purpose of the Study:

  • To investigate the impact of normalizing gene expression levels on DS phenotypes.
  • To explore gene-based treatment strategies for ameliorating DS-related alterations.

Main Methods:

  • Studying the physiological roles of dysregulated genes in DS.
  • Characterizing gene dosage imbalance in murine models.

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Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

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Last Updated: May 22, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

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  • Evaluating gene therapy strategies using delivery vectors.

    • Main Results:

    • Identification of critical genes and noncoding elements contributing to DS etiology.
    • Demonstration of gene therapy's potential in correcting phenotypic abnormalities.
    • Insights into the effects of normalizing gene expression for rescuing specific DS phenotypes.

    Conclusions:

    • Gene dosage imbalance on HSA21 profoundly impacts gene expression and cellular function in DS.
    • Gene therapy offers a promising avenue for therapeutic intervention in Down syndrome.
    • Targeting gene expression normalization holds potential for ameliorating DS-associated alterations.