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Pathway-based classification of genetic diseases.

Ivan Y Iourov1,2,3, Svetlana G Vorsanova1,2, Yuri B Yurov1,2

  • 1Mental Health Research Center, 117152 Moscow, Russia.

Molecular Cytogenetics
|February 16, 2019
PubMed
Summary
This summary is machine-generated.

This study proposes a new pathway-centric classification for genetic diseases, moving beyond gene-centric models. This novel "griphos" classification system aims to better reflect disease mechanisms and improve understanding of genetic disorders.

Keywords:
ChromosomeClassificationDiseaseGenesGenomePathwayPhenotype

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Area of Science:

  • Medical Genetics
  • Systems Biology
  • Genomic Medicine

Background:

  • Current medical genetics classifications are gene-centric (monogenic, oligogenic, polygenic/multifactorial), often excluding chromosomal abnormalities.
  • These traditional classifications do not fully capture the complexity of disease mechanisms revealed by systems biology.
  • A need exists for a classification that integrates genetic defects with molecular and cellular pathway alterations.

Purpose of the Study:

  • To propose an extended disease classification system that incorporates molecular pathways.
  • To introduce a novel terminology based on Greek roots for this pathway-centric classification.

Main Methods:

  • Utilized systems biology insights to link genomic variations to pathway alterations.
  • Developed a new classification framework based on the number and type of affected pathways.
  • Adopted Greek terminology ('griphos') to denote pathways in the classification system.

Main Results:

  • Introduced the 'griphos' classification: monogryphic (single pathway), digryphic (two pathways), oligogryphic (several pathways), polygryphic (numerous pathways).
  • Included 'homeogryphic' for comorbid diseases sharing pathway alterations.
  • Demonstrated a new conceptual framework for understanding genetic diseases.

Conclusions:

  • The proposed pathway-centric 'griphos' classification offers a more comprehensive view of genetic diseases.
  • This approach integrates gene-centric and pathway-centric concepts, potentially revolutionizing the understanding of genetic disorders.
  • The classification aims to better align with disease presentation and progression by focusing on pathogenetic mechanisms.