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The three-dimensional conformation of DNA in a cell has broad impacts on human health and disease — including in neurodevelopmental disorders caused by chromosomal abnormalities. Down syndrome caused by trisomy 21 is known to induce genome-wide transcriptional disruption. However, the consequences on the nuclear architecture and its interplay with the transcriptome have only recently been elucidated.

 

Key Takeaways

  • Alterations to 3D genome conformation can affect transcriptional regulation in a wide range of disease states
  • Trisomy 21 disrupts nuclear architecture and transcriptome of neural progenitors which display signatures of cellular senescence
  • Senolytic therapeutics can ameliorate trisomy-21-associated molecular and cellular dysfunctions

About the speaker

Hiruy Meharena, PhD

Assistant Professor of Neurobiology and Molecular Biology at UC, San Diego

Hiruy Meharena is an Assistant Professor of Neurobiology and Molecular Biology in the Division of Biological Sciences at UC, San Diego. The overarching goal of his research is focused on understanding the genetic, molecular, and cellular mechanisms governing neurodevelopment and neurodevelopmental disorders. His team is particularly interested in understanding the role of the 3D-genome organization in development and cognition and how genomic alterations associated with intellectual disabilities such as Autism Spectrum Disorder and Down syndrome disrupt these processes.