Mayo Magazine

A Glossary of Terms — Understanding Genomics and Proteomics

Bioinformatics — The research, development or application of mathematical tools and approaches for expanding the use of biological, medical, behavioral or health data. This includes methods to acquire, store, organize, archive, analyze or visualize data. For example, statisticians are needed to create new informatics tools to enable Mayo Clinic physicians and investigators to link gene sequences to patient data.

Chromosomes — The housing for genes. Chromosomes come in 23 pairs, one from each parent, for a total of 46. Because chromosomes contain genes, a person will have two copies of every gene. The chromosomes are in the cell's nucleus.

DNA — Deoxyribonucleic acid (DNA) — a vast molecule made of chemical building blocks called bases (or nucleotides). DNA stores the genetic information that is passed from generation to generation.

Genes — These are segments of DNA that regulate biological activity, such as the production of proteins. Genes are found in chromosomes within the nuclei of every cell.

Genetic testing — Examining a sample of blood or other body fluid or tissue for biochemical, chromosomal or genetic markers that can be used to guide the prevention, diagnosis and treatment of disease.

Gene therapy — A way to treat disease by replacing, manipulating or supplementing nonfunctional genes.

Genomics — The study of how an individual's genes interact with each other and with the environment to create the complexity of life. The potential of genomics is to personalize medical care by basing treatments specifically on a person's genetic makeup. Genomics research has led to the identification of disease-related genes that have led to the development of new genetic tests.

Human genome — The complete set of genes for an individual.

Medical genomics — The application of basic knowledge of the human genome to questions that influence human health. Medical genomics promises a fundamental change in the practice of medicine by: identifying new genes with disease relevance; providing better characterization of subcategories of disease; providing better identification of risk factors; and creating the potential for individualized drug therapies. Medical genomics is also known as the new biology.

Molecule — The smallest particle of a substance that retains the chemical and physical properties of the substance and is composed of two or more atoms.

Nucleotides — The basic building blocks of DNA and RNA. Nucleotides contain all the information needed for the life functions of a cell.

Nucleus — A specialized structure in cells that contains all the chromosomes.

Pharmacogenomics — Identifying which drugs and which doses are the most appropriate for a given patient. For example, prior to beginning treatment, Mayo Clinic pharmacology researchers identify patients whose gene sequences differ in drug-metabolizing enzymes, leading to life-saving tests for a subset of the population.

Proteins — The three-dimensional building blocks that make up much of the body and carry out its functions.

Proteomics — The study of protein structure and function within a cell. For example, knowing the characteristics and shape of a key protein in a given disease could allow researchers to custom-design therapeutic agents. Researchers would be able to create a drug molecule that would bind securely to the protein. This could interrupt the protein's signal, thus stopping, starting or modifying a biological process. Proteomics works hand in hand with genomics.

RNA — Different types of ribonucleic acid (RNA) perform many critical functions within cells, including key roles in specifying the structure of proteins.