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Updated: Jun 27, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
The broken Alzheimer's disease genome
Cláudio Gouveia Roque1, Hemali Phatnani2, Ulrich Hengst3
1Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, NY 10013, USA; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Genomic and epigenomic research reveals the complex mechanisms underlying late-onset Alzheimer's disease (AD). Integrating these findings offers new avenues for personalized and predictive AD care, moving beyond traditional pathology.
Area of Science:
- Neuroscience
- Genetics
- Genomics
Background:
- Late-onset Alzheimer's disease (AD) presents complex pathobiology, challenging therapeutic and preventative strategies.
- Classical hallmarks of AD pathology do not fully capture the disease's intricate mechanisms.
Purpose of the Study:
- To review genetic, epigenomic, and gene expression findings in AD pathogenesis.
- To explore how integrating these data enhances understanding of AD's multicellular imbalances and heterogeneity.
Main Methods:
- High-resolution sequencing technologies applied to genomic and epigenomic analyses.
- Integration of genetic, epigenomic, and gene expression data.
- Review of current literature on AD pathogenesis.
Main Results:
- Genomic insights, termed the "broken AD genome," provide quantitative evidence beyond classical AD hallmarks.
- Advances highlight novel biological pathways implicated in AD.
- Genomic and epigenomic data are revitalizing drug discovery and improving clinical tools.
Conclusions:
- Integration of multi-omics data offers a clearer understanding of AD's heterogeneous, multicellular nature.
- Future AD care holds promise for being more personalized and predictive based on these research milestones.
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