Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

Nat Rev Genet. 2015 Aug;16(8):441-58. doi: 10.1038/nrg3934. Epub 2015 Jul 7.


Genetic and genomic approaches have implicated hundreds of genetic loci in neurodevelopmental disorders and neurodegeneration, but mechanistic understanding continues to lag behind the pace of gene discovery. Understanding the role of specific genetic variants in the brain involves dissecting a functional hierarchy that encompasses molecular pathways, diverse cell types, neural circuits and, ultimately, cognition and behaviour. With a focus on transcriptomics, this Review discusses how high-throughput molecular, integrative and network approaches inform disease biology by placing human genetics in a molecular systems and neurobiological context. We provide a framework for interpreting network biology studies and leveraging big genomics data sets in neurobiology.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain / cytology
  • Brain / metabolism*
  • Developmental Disabilities / genetics*
  • Gene Expression Profiling / methods*
  • Gene Regulatory Networks / genetics*
  • High-Throughput Screening Assays / methods*
  • High-Throughput Screening Assays / trends
  • Humans
  • Models, Neurological*
  • Neurobiology / methods*
  • Neurobiology / trends
  • Neurodegenerative Diseases / genetics*
  • Systems Biology / methods
  • Systems Biology / trends