Medical Definition of Genomics

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Reviewed on 12/11/2018

Genomics: The study of genes and their function. Genomics aims to understand the structure of the genome, including the mapping genes and sequencing the DNA. Genomics examines the molecular mechanisms and the interplay of genetic and environmental factors in disease.

Genomics includes:

  • Functional genomics -- the characterization of genes and their mRNA and protein products.
  • Structural genomics -- the dissection of the architectural features of genes and chromosomes.
  • Comparative genomics -- the evolutionary relationships between the genes and proteins of different species.
  • Epigenomics (epigenetics) -- DNA methylation patterns, imprinting and DNA packaging.
  • Pharmacogenomics -- new biological targets and new ways to design drugs and vaccines.

The birth of the term "genomics" was documented as follows: "For the newly developing discipline of mapping/sequencing (including analysis of the information) we have adopted the term GENOMICS. We are indebted to T. H. Roderick of the Jackson Laboratory, Bar Harbor, Maine, for suggesting the term. The new discipline is born from a marriage of molecular and cell biology with classical genetics and is fostered by computational science." (Victor A. McKusick and Frank H. Ruddle. A new discipline, a new name, a new journal [editorial]. Genomics 1987 Sep;1:1-2.)

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Reviewed on 12/11/2018