Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Karyotyping01:17

Karyotyping

68.1K
Overview
68.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

KLF6 activation marks an angiogenic and apoptosis resistant endothelial phenotype in pulmonary arterial hypertension.

Communications biology·2026
Same author

Abnormal neuronal and synaptic morphology in Down syndrome brains reproduces in human isogenic cellular models.

Cell death & disease·2026
Same author

A Cross-Species Enhancer-AAV Toolkit for Cell Type-Specific Targeting Across the Basal Ganglia.

bioRxiv : the preprint server for biology·2026
Same author

Technical and biological sources of noise confound multiplexed enhancer AAV screening.

Nature communications·2026
Same author

Pool-packaged AAV libraries exhibit extensive length-dependent and homology-dependent chimerism.

Nature biotechnology·2026
Same author

The MacBrain Resource Center (MBRC) rhesus macaque embryonic brain histology datasets.

Journal of anatomy·2026

Related Experiment Video

Updated: Jan 18, 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

979

Single-cell atlas of the developing Down syndrome brain cortex.

Michael Lattke1, Wee Leng Tan2, Salil Kalarikkal Sukumaran2

  • 1Department of Brain Sciences, Imperial College London, London, UK. m.lattke@imperial.ac.uk.

Nature Medicine
|January 16, 2026
PubMed
Summary

Down syndrome (DS) disrupts fetal brain development by altering specific neuron populations and gene expression. Researchers identified key chromosome 21 genes that may be targeted to potentially improve neurodevelopmental outcomes.

More Related Videos

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development
14:19

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development

Published on: March 25, 2022

4.4K
Whole-Brain Single-Cell Imaging and Analysis of Intact Neonatal Mouse Brains Using MRI, Tissue Clearing, and Light-Sheet Microscopy
08:49

Whole-Brain Single-Cell Imaging and Analysis of Intact Neonatal Mouse Brains Using MRI, Tissue Clearing, and Light-Sheet Microscopy

Published on: August 1, 2022

4.2K

Related Experiment Videos

Last Updated: Jan 18, 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

979
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development
14:19

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development

Published on: March 25, 2022

4.4K
Whole-Brain Single-Cell Imaging and Analysis of Intact Neonatal Mouse Brains Using MRI, Tissue Clearing, and Light-Sheet Microscopy
08:49

Whole-Brain Single-Cell Imaging and Analysis of Intact Neonatal Mouse Brains Using MRI, Tissue Clearing, and Light-Sheet Microscopy

Published on: August 1, 2022

4.2K

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Down syndrome (DS) is the leading genetic cause of intellectual disability.
  • The precise mechanisms by which trisomy 21 disrupts fetal brain development are not fully understood.

Purpose of the Study:

  • To investigate the molecular and cellular changes in the developing brain in Down syndrome.
  • To identify key genes and regulatory pathways affected by trisomy 21.

Main Methods:

  • Single-cell transcriptomic and chromatin accessibility profiling of human fetal cortices from DS and control individuals.
  • In vitro studies using antisense oligonucleotides to normalize gene expression in neural progenitors.
  • Benchmarking a humanized in vivo model for DS.

Main Results:

  • Identified subtype-specific reductions in excitatory neurons (RORB/FOXP1-expressing) and widespread disruption of neurodevelopmental programs.
  • Chromosome 21 transcription factors (BACH1, PKNOX1, GABPA) identified as dosage-sensitive regulators of intellectual disability-linked genes.
  • In vitro normalization of these TFs partially rescued target gene expression.

Conclusions:

  • Defined the gene-regulatory landscape of cortical development in DS.
  • Highlighted specific molecular pathways and transcription factors as potential targets for therapeutic investigation in Down syndrome.