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Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity
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Omics in laboratory medicine.

Giuseppe Castaldo1, Manuela Scorza, Ausilia Elce

  • 1Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II , Napoli .

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|September 25, 2013
PubMed
Summary

Advances in genomics, proteomics, and epigenomics reveal complex molecular underpinnings of human genetic diseases. These "omics" studies highlight individual uniqueness in disease pathogenesis and phenotypic expression.

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Area of Science:

  • Human genetics
  • Molecular biology
  • Genomics
  • Proteomics
  • Epigenomics

Background:

  • Over 7,000 human disease genes are known, significantly advancing molecular diagnostics.
  • Complex relationships exist between disease phenotypes and underlying molecular alterations.
  • Most proteins undergo post-translational modifications or alternative splicing.

Purpose of the Study:

  • To explore the intricate connections between molecular alterations and human genetic disease phenotypes.
  • To understand the role of post-translational modifications, alternative splicing, and epigenetic mechanisms in disease.
  • To highlight the increasing complexity and individual uniqueness revealed by omics studies.

Main Methods:

  • Genomic analysis to identify disease-associated genes.
  • Proteomic analysis to study protein modifications and alternative splicing.
  • Epigenomic analysis to investigate gene expression regulation (microRNA, histone acetylation, methylation).

Main Results:

  • Most proteins are subject to post-translational changes or alternative splicing.
  • Epigenetic mechanisms like microRNA regulation, histone acetylation, and gene methylation modulate gene expression.
  • Alterations in these molecular mechanisms contribute to disease pathogenesis and phenotypic expression.

Conclusions:

  • Molecular analysis of genetic diseases is becoming increasingly complex.
  • Omics studies underscore the unique molecular profile of each individual.
  • Understanding these complex molecular layers is crucial for diagnosing and potentially treating genetic diseases.