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Definitions

Behavioral Genetics research studies how genes influence our behavior. Researchers try to identify particular genes, or groups of genes, associated with behavior traits and the role of environmental factors.

Biomarkers are any sort of biological molecules in the blood or tissue that can change in a gene. Biomarkers can provide certain information about diseases and treatments.

Chromosome Abnormalities (also called chromosome disorders) are clinical conditions caused by extra chromosome or missing chromosome material (either a whole chromosome or a chromosome segment).

DNA, or deoxyribonucleic acid is the hereditary material in humans and most other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is in the cell nucleus (nuclear DNA), but a small amount of DNA can also be in the mitochondria (mitochondrial DNA or mtDNA).

Epigenetics is the study of heritable changes in gene function that occur without a change in the DNA sequence. It is genetic knowledge in terms of genetic tests and services for disease prevention and health promotion.

The epigenome is the sum total of the non-coding, but inherited, modifications to DNA.

Epigenomics is the systematic study of the global gene expression changes due to Epigenetic processes and not due to DNA base sequence changes. Epigenomics is a contemporary view of genes and behavior as complex systems and interactions.

Gene [PDF] is a word with two meanings in the human context: (1) the determinant of an observable trait or characteristic of an organism, or (2) the DNA sequence that determines the chemical structure of a specific polypeptide molecule or RNA molecule. Since the observable characteristics of organisms include the chemical structures of their constituent molecules, these two definitions merge at the molecular level. Genes are the units of heredity which code for the basic instructions for the development, reproduction, and maintenance of organisms. A Gene is a piece of DNA. About 30,000 genes in each cell of the human body together form a “blueprint” body and how it works.

Genetic Counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. It is a sub-discipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.

Genetic Disease may used interchangeably with Genetic Disorder.

Genetic Disorder is a disease caused by an abnormality in an individual's DNA. It can be 1) inherited by a person from his or her parent(s), in which case a person is born with a disorder or 2) related to some type of genetic change if a disease-causing mutation occurs during cell division. Diseases are caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Some Specific Genetic Disorders are listed by the National Human Genome Research Institute. A Genetics and Rare Conditions Site (University of Kansas) is also available for information about disorder resources, organizations, and support groups focused on specific conditions.

Genetic Testing looks at a person's genetic makeup for a variety of reasons.The Universe of Genetic Testing (Lab Tests Online) has sections aboutThe Basics,Clinical Genetic Testing,Pharmacogenomics,Identity Testing,Parentage Testing,Tissue Typing,Cytogenetics,Infectious Disease Testing,Pros and Cons, The Future. Gene Tests is another medical genetics information resource developed for physicians, genetic counselors, other healthcare providers, and researchers.

Genetics is the study of single genes and their roles in the way traits or conditions are passed from one generation to another. Genetics studies heredity, the process in which parents pass certain genes to their children [see Genetics 101 MedlinePlus Magazine]. Genetics examines the functioning and composition of the single gene.

Genetics in medicine is an evolving science. We are still discovering how genetic/genomic information is stored in our DNA, how alterations to DNA can affect health, how to identify individuals and families at increased risk of genetic conditions and how genomic information can be used to inform management of patients.

Genomics in mainstream medicine is the use of genomic information and technologies to determine disease risk and predisposition, diagnosis and prognosis, and the selection and prioritization of therapeutic options.

Genomics is the systematic study of genes (or several genes) and their functions, the complete DNA sequences (GENOME) of organisms and related techniques. Genomics describes the study of all parts of an organism’s genes; that is, all of the genes carried by a single gamete; the DNA content of an individual (which includes all 44 autosomes, 2 sex chromosomes, and the mitochondrial DNA). Genomics addresses all genes and their interrelationships to identify their combined influence on the growth and development of the organism.

HapMap Project refers to partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.

Heritability (also heredity or inheritance) is the proportion of phenotypic variation within a population due to either individual genetic variation or due to additive genetic variation. It is the transmission of traits encoded in genes from parent to offspring. Heritability studies typically estimate the proportion of observed variation in a particular trait (for example, height) that can be attributed to inherited genetic factors in contrast to environmental ones.

Inheritance Pattern refers to the genetic transmission of traits from parents to offspring. Heredity helps explain why children tend to resemble their parents, as well as how a genetic disease runs in a family.

HuGENet , (Human Genome Epidemiology Network) established by The Office of Public Health Genomics helps to translate genetic research findings into opportunities for preventive medicine and public health.

Human Genome Project (HGP) is described by genome.gov as a “voyage of discovery…an international research effort to sequence and map all of the genes - together known as the genome…” Completed in April 2003, the HGP gives us the ability to read nature's complete genetic blueprint for building a human being.

Medical genetics (not the same as genetics in medicine) is variously defined as the science of human biological variation relating to health and disease; the study of the etiology, pathogenesis, and natural history of diseases and disorders that are at least partially genetic in origin; and the application of genetics to medicine or to medical practice. It is a sub-discipline of human genetics.

Nutrigenomics is a field that studies the relationship between nutrition and genes, and the study effects of foods and food constituents on gene expression.

Personalized medicine is tailoring medical treatment to the individual characteristics of each patient. The approach relies on scientific breakthroughs in understanding how a person’s unique molecular and genetic profile makes that person susceptible to certain diseases. The research increases our ability to predict which medical treatments will or will not be safe and effective for each patient.

Pharmacogenetics and Pharmacogenomics are terms used more or less interchangeably; but technically have different meanings. Pharmacogenetics studies an individual's genetic makeup to predict responses to a drug and guide prescription. It recognizes that individuals respond differently to medicines. Pharmacogenomics (PGx) analyzes entire genomes across groups of individuals to identify genetic factors influencing responses to a drug. The U.S. Food and Drug Administration (FDA) states that Pharmacogenomics identifies genetic variants that alter patients' responses to medications for certain diseases, and tailors drug treatments to genetic makeup—a form of 'personalised medicine'. The FDA seems to use Pharmacogenomics (PGx) and pharmacogenetics interchangeably as the study of how genes affect a person’s response to drugs. This is because Pharmacogenomics (PGx) combines pharmacology and genomics to develop effective medications and doses tailored to a person’s genetic makeup; i.e., uses genetic information to predict whether a drug will help make a patient well or ill.

Public Health Genomics (PHG), according to the 2006 Bellagio Statement, is a multidisciplinary field concerned with the effective and responsible translation of based knowledge and technologies to improve population health. The National Cancer Institute's Epidemiology and Genomics Research Program (EGRP) provides opportunities for investigators to increase understanding of cancer causes and prevention in human populations.

Systems biology , a “new” view of biology, a consequence of the Human Genome Project, monitors responses to biological processes disturbances for a comprehensive, methodical analysis of complex biological systems. It is closely related to Functional Genomics, holistic, multidisciplinary study of complex interactions that specify the function of an entire biological system—whether single cells or multicellular organisms—rather than the reductionist study of individual components in isolation. Systems biology is used by the Department of Engery Genomic Science Program for understanding biological systems to develop predictive, computational models of these systems.

Translocation literally means a “change in location” referring to genetic translocations. Translocation involves breakage and reconnection of different chromosomes, the cellular storage units for genes inside the cell nucleus (the genetic center). Part of a chromosome transfers to another position in the genome. Some cancers, for example, without known hereditary or other factors, are acquired chromosome alterations that translocate. For more about this, see What is a Translocation? by Drs. Gabriela Mercado and Frederic Barr who explain chromosomal translocations in sarcomas (e.g., Ewing’s Sarcoma) characterized by deregulated pathways that mediate cell survival and proliferation.

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