Chapter 8 - Gene Therapy and Pharmacogenomics

• Acquired disease - Any disease triggered by external factors and not directly caused by a person’s genes (e.g., an infectious disease, noncongenital cardiovascular diseases).

• Alleles - The two or more alternative forms of a gene.

• Chromosomes - Structures in the nuclei of cells that contain threads of DNA, which transmit genetic information, and are associated with RNA molecules and synthesis of protein molecules.

• Gene - The biologic unit of heredity; a segment of a DNA molecule that contains all of the molecular information required for the synthesis of a biologic product such as an RNA molecule or an amino acid chain (protein molecule).

• Gene therapy - New therapeutic technologies that directly target human genes in the treatment or prevention of illness.

• Genetic disease - Any disorder caused directly by a genetic mechanism.

• Genetic material - DNA or RNA molecules or portions thereof.

• Genetic polymorphisms (PMs) - Variants that occur in the chromosomes of 1% or more of the general population.

• Genetic predisposition - The presence of certain factors in a person’s genetic makeup, or genome that increases the individual’s likelihood of developing one or more diseases.

• Genetics - The study of the structure, function, and inheritance of genes.

• Genome - The complete set of genetic material of any organism.

• Genomics - The study of the structure and function of the genome and the way genes and their products work in both health and disease.

• Genotype - The particular alleles present at a given site on the chromosomes that determine a specific genetic trait for that organism (compare phenotype).

• Heredity - The characteristics and qualities that are genetically passed from one generation to the next through reproduction.

• Human Genome Project (HGP) - A scientific project of the US Department of Energy and National Institutes of Health (NIH) to describe in detail the entire genome of a human being.

• Inherited disease - Genetic disease that results from defective alleles passed from parents to offspring.

• Nucleic acids - Molecules of DNA and RNA in the nucleus of every cell. DNA makes up the chromosomes and encodes the genes.

• Personalized medicine - The use of molecular and genetic characterizations of both the disease process and the patient for the customization of drug therapy.

• Pharmacogenetics- A general term for the study of the genetic basis for variations in the body’s response to drugs, with a focus on variations related to a single gene.

• Pharmacogenomics -  A branch of pharmacogenetics (see earlier) that involves the survey of the entire genome to detect multigenic (multiple-gene) determinants of drug response.

• Phenotype - The expression in the body of a genetic trait that results from a person’s particular genotype (see earlier) for that trait.

Recombinant DNA (rDNA) - DNA molecules that have been artificially synthesized or modified in a laboratory setting.