Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.

Facilities that collect, store, and distribute tissues, e.g., cell lines, microorganisms, blood, sperm, milk, breast tissue, for use by others. Other uses may include transplantation and comparison of diseased tissues in the identification of cancer.

A person who has not attained the age at which full civil rights are accorded.

Persons who are enrolled in research studies or who are otherwise the subjects of research.

The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic.

A subdiscipline 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.

Those individuals engaged in research.

Hospital or other institutional committees established to protect the welfare of research subjects. Federal regulations (the "Common Rule" (45 CFR 46)) mandate the use of these committees to monitor federally-funded biomedical and behavioral research involving human subjects.

The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)

Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment.

The ethical and/or legal obligation of a health provider or researcher to communicate with a former patient or research subject about advances in research relevant to a treatment or to a genetic or other diagnostic test provided earlier, or about proposed new uses of blood or tissue samples taken in the past for another purpose.

Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)

Revealing of information, by oral or written communication.

The attitude of a significant portion of a population toward any given proposition, based upon a measurable amount of factual evidence, and involving some degree of reflection, analysis, and reasoning.

Informed consent given by a parent on behalf of a minor or otherwise incompetent child.

The privacy of information and its protection against unauthorized disclosure.

The state of being free from intrusion or disturbance in one's private life or affairs. (Random House Unabridged Dictionary, 2d ed, 1993)

An enduring, learned predisposition to behave in a consistent way toward a given class of objects, or a persistent mental and/or neural state of readiness to react to a certain class of objects, not as they are but as they are conceived to be.

Group behavior toward others by virtue of their group membership.

The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders.

Centers for acquiring, characterizing, and storing organs or tissue for future use.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

Truthful revelation of information, specifically when the information disclosed is likely to be psychologically painful ("bad news") to the recipient (e.g., revelation to a patient or a patient's family of the patient's DIAGNOSIS or PROGNOSIS) or embarrassing to the teller (e.g., revelation of medical errors).

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Interaction between research personnel and research subjects.

A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.

The term "United States" in a medical context often refers to the country where a patient or study participant resides, and is not a medical term per se, but relevant for epidemiological studies, healthcare policies, and understanding differences in disease prevalence, treatment patterns, and health outcomes across various geographic locations.

An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.

Financial support of research activities.

The systematic study of the complete DNA sequences (GENOME) of organisms.

An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.

Community or individual involvement in the decision-making process.

Criteria and standards used for the determination of the appropriateness of the inclusion of patients with specific conditions in proposed treatment plans and the criteria used for the inclusion of subjects in various clinical trials and other research protocols.

A plan for collecting and utilizing data so that desired information can be obtained with sufficient precision or so that an hypothesis can be tested properly.

Genotypic differences observed among individuals in a population.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Research carried out by nurses, generally in clinical settings, in the areas of clinical practice, evaluation, nursing education, nursing administration, and methodology.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.

The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.

The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.

Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.

Public attitudes toward health, disease, and the medical care system.

The integration of epidemiologic, sociological, economic, and other analytic sciences in the study of health services. Health services research is usually concerned with relationships between need, demand, supply, use, and outcome of health services. The aim of the research is evaluation, particularly in terms of structure, process, output, and outcome. (From Last, Dictionary of Epidemiology, 2d ed)

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.

Conversations with an individual or individuals held in order to obtain information about their background and other personal biographical data, their attitudes and opinions, etc. It includes school admission or job interviews.

A social group consisting of parents or parent substitutes and children.

The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).