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Molecular Medicine glossary and taxonomy
Evolving Terminology for Emerging Technologies
Suggestions? Comments? Questions? Mary Chitty 
Last revised May 12, 2015 
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See also Basic genetics & genomics with introductory educational resources (some for schoolkids and teachers, but useful for others as well). Genomics is far from being integrated into clinical settings, but there are some notable examples, and far more being investigated in research settings.  Expect progress to be nonlinear for some time yet.      

Science's review of "The sequence of the human genome" (J. Craig Venter et al 291: 1304-1352 Feb. 16, 2001) concludes that a "paramount challenge awaits: public discussion of this information and its potential for improvement of personal health ... There are two fallacies to be avoided: determinism, the idea that all characteristics of the person are 'hard- wired" by the genome; and reductionism, the view that with complete knowledge of the human genome sequence, it is only a matter of time before our understanding of gene functions and interactions will provide a complete causal description of human variability."

Nature's "Initial sequencing and analysis of the human genome" (International Human Genome Sequencing Consortium, 409 (no. 6822:860-914, 15 Feb. 2001) concludes "Finally it has not escaped our notice [a graceful allusion to Crick and Watson's 1953 Nature paper] that the more we learn about the human genome, the more there is to explore." and ends by quoting T.S. Eliot's Four Quartets [Little Gidding] "We shall not cease from exploration. And the end of all our exploring will be to arrive where we started, and know the place for the first time."  We would be wise to keep these words in mind.

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behavior change science: Human behavior accounts for almost 40% of the risk associated with preventable premature deaths in the United States. Health-injuring behaviors such as smoking, drinking, and drug abuse, as well as inactivity and poor diet are known to contribute to many common diseases and adverse health conditions. Unfortunately, there are few tried and true approaches to motivate people to adopt and maintain healthy behaviors over time. It is difficult for people to begin to change unhealthy behavior, even when they intend to do so, and even more difficult for them to maintain positive behavior changes in the long run. Effective and personalized approaches to achieve sustained behavior change are typically outside the routine practice of medical care. … The Common Fund is launching the Science of Behavior Change program to improve our understanding of human behavior change across a broad range of health-related behaviors. The program will support research that integrates basic and translational science and cuts across disciplines of cognitive and affective neuroscience, neuroeconomics, behavioral genetics, and behavioral economics. Science of Behavior Change, NIH Common Fund 

behavioral genetics:

behavior genomics:  The probabilistic rather than deterministic influence of genes on behavior means that some of the ethical specters raised by the advent of behavioral genomics probably have little substance. ... For example, it has sometimes been suggested that geneticization is likely to increase the stigma of mental disorders. To the contrary, far from increasing the stigma, advances in genetics have the opposite effect. As a case in point, it is now perfectly acceptable for an ex- president of the United States and his family to acknowledge that he has Alzheimer's disease, a disorder for which much progress has been made in understanding its basis at a molecular level. In the recent past this might have been called "going senile" and would have been seen as somehow morally reprehensible. We predict that this is the start of a trend and that identifying genes involved in behavioral disorders will do much to improve public perception and tolerance of  behavioral disorders.  Peter McGuffin "Toward Behavioral Genomics" Science 291 (5507): 1232- 1249 Feb. 16, 2001 Related terms: behavioral genetics; Diagnostics & genetic testing "designer babies"

biomedical genomics: In the spring of 2000, nine thematic areas were identified as those that captured the then and enduring promise of genomics/ proteomics to contribute to advances in prevention and treatment of disease: cancer genomics, pharmacogenomics, genomics of complex traits and disease, microbial pathogenomics, immunogenomics, stem cell genomics, structural genomics/proteomics, and genomics and bioethical, social and legal issues. About the BMGC, Biomedical Genomics Center (BMGC) Univ. of Minnesota, US  

bone substitutes: Biomaterials 
cell therapeutics: Cell technologies & therapies

channelopathy: Wikipedia  includes list of examples.  Related term: Pharmaceutical biology ion channels

chemotherapy: Treatment with anticancer drugs  Synonyms: Drug treatment (drug therapy), medication therapy, pharmacotherapeutics, pharmacotherapy  Genetics Home Reference, National Library of Medicine, NIH 

Often refers to cancer treatments, but is also used more generally for drug therapy, particularly antimicrobial drugs.

chronome: Derived from chronos (time), nomos (rule, law) and in the case of biological chronomes, chromosome, describes features in time, just as cells characterize the spatial organization of life. The chronome complements the genome (derived from gene and chromosome). The chronome consists of 1) a partly genetic, partly developmental, partly environmentally influenced or synchronized spectrum of rhythms; 2) stochastic or deterministic chaos; 3) trends with growth, development, maturation and aging in health and/ or trends with an elevation of disease risk, illness and treatment in disease; and 4) unresolved variability. The chronome is genetically coded: it is environmentally synchronized by cycles of the socio- ecologic habitat niche and it is influenced by the dynamics of the interplanetary magnetic field. The chronome constituents, the chrones, algorithmically formulated endpoints, are inferentially statistically validated and resolved by the computer. Chronomes and their chrones 1) quantify normalcy, allowing an individualized positive health quantification; 2) assess, by their alterations, the earliest abnormality, including the quantification of an elevated risk of developing one (or several) disease(s), chronorisk, by the alteration of one or several chrones; and 3) provide, by the study of underlying mechanisms, a rational basis in the search for measures aimed at the prevention of any deterioration in properly timed, mutually beneficial environmental- organismic interactions. [Franz Halberg et. al "The Story Behind: Chronome/ chrone" Neuroendocrinology Letters 20: 101 1999]

Gubin D, Halberg F. et. al, "The human blood pressure chronome: a biological gauge of aging" In Vivo 11 (6): 485- 494, Nov- Dec. 1997 

chronomics: Technology allows the monitoring of ever denser and longer serial biological and physical environmental data. This in turn allows the recognition of time structures, chronomes, including, with an ever broader spectrum of rhythms, also deterministic and other chaos and trends. Chronomics thus resolves the otherwise impenetrable "normal range" of physiological variation and leads to new, dynamic maps of normalcy and health in all fields of human endeavor, including, with health care, physics, chemistry, biology, and even sociology and economics. [F. Halberg et. al. "Essays on chronomics spawned by transdisciplinary chronobiology. Witness in time: Earl Elmer Bakken" Neuroendocrinology Letters 22 (5): 359- 384 Oct. 2001]    Narrower terms: bacterial chronomics, cardio-chronomics

chronotherapy: The adaptation of the administration of drugs to circadian rhythms. The concept is based on the response of biological functions to time-related events, such as the low point in epinephrine levels between 10 p.m. and 4 a.m. or the elevated histamine levels between midnight and 4 a.m. The treatment is aimed at supporting normal rhythms or modifying therapy based on known variations in body rhythms. While chronotherapy is commonly used in cancer chemotherapy, it is not restricted to cancer therapy or to chemotherapy. MeSH, 1997  

clinical development: Insight Pharma reports  

clinical endpoint: Biomarkers  

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Clinical Genomics
The unstoppable march of genomics into clinical practice continues. In an ideal world, the expanding use of genomic tools will identify disease before the onset of clinical symptoms and determine individualized drug treatment leading to precision medicine. However, many challenges remain for the successful translation of genomic knowledge and technologies into health advances and clinical practice.  TCGC: The Clinical Genome Conference  June 22-24, 2015 • San Francisco, CA Program | Register | Download Brochure  


Related terms: molecular diagnostics, molecular medicine

clinical proteomics:-is a sub-discipline of proteomics that involves the application of proteomic technologies on clinical specimens such as blood. Cancer, in particular, is a model disease for applying such technologies to identify unique biosignatures and biomarkers responsible for the diagnosis, prognosis and therapeutic prediction of such disease . .... The greatest promise for the  detection and treatment of cancer lies in the deep understanding of molecular basis for disease initiation, progression and efficacious treatment based on the discovery of unique biomarkers. Although progress in cancer genomics has been rapid during the past few years, it only provides us with a glimpse of what may occur as dictated by the genetic code. In reality, we still need to measure what is happening in a patient in real time, which means finding tell-tale proteins that provide insight into the biological processes of cancer development. This is because genes are only the "recipes" of the cell, while the proteins encoded by the genes are ultimately the functional players that drive both normal and disease physiology. National Cancer Institute, Office Of Cancer Clinical Proteomics Res   http://proteomics.
 Clinical proteomics aims to discovery proteins with medical relevance said Alan Sachs, a director of R&D at Merck. Such discoveries can be defined broadly as those that identify a potential target for pharmaceutical development, a marker(s) for disease diagnosis or staging and risk assessment, both for medical and environmental studies. (Note that there is a difference between developing biological insight and identifying clinically important diagnostic and prognostic protein- based assays.) Defining the Mandate of Proteomics in the Post- Genomics Era, Board on International Scientific Organizations, National Academy of Sciences, 2002    Related terms: molecular medicine, translational medicine

clinical research: NIH defines human clinical research as: (1) Patient-oriented research. Research conducted with human subjects (or on material of human origin such as tissues, specimens and cognitive phenomena) for which an investigator (or colleague) directly interacts with human subjects. Excluded from this definition are in vitro studies that utilize human tissues that cannot be linked to a living individual. Patient-oriented research includes: (a) mechanisms of human disease, (b) therapeutic interventions, (c) clinical trials, or (d) development of new technologies. (2) Epidemiologic and behavioral studies. (3) Outcomes research and health services research. Human Subjects Research Definitions, NIH, 2004  Related terms: clinical genomics, translational research, translational medicine

cogniceuticals: Drugs that work on 'knowing' - memory, learning, attention. They are 'the fastest-growing neuro-pharmaceutical market' and are set to be so for several decades, unfolding a 'neurosociety' in which functions of the human mind are protected and then enhanced in earnest.  John Hind, Observer, July 24, 2005,11913,1534827,00.html    Related terms: neuroceuticals, neuropharmaceuticals

combination therapies: where two or more medications or therapies are strategically combined to improve the treatment of cancer, chronic infections, transplantation and potentially other complex and multi-factorial diseases. Increasingly detailed understanding of the molecular basis driving complex disease has led to the identifications of new agents that target specific pathways. In some cases treatment of appropriately selected patients has led to striking clinical response, however both primary and secondary resistance mechanisms limited the success of many of these agents. It has become clear that combining or sequencing treatment modalities may en to enrich the communication between basic biological and immunological sciences and the clinical investigation arena. Scope note Combination Strategies Section, Journal of Translational Medicine

controller gene diseases: Among medical developments expected in the wake of a Human Regulome Project are the diagnosis and treatment of controller gene diseases (Zuckerkandl, l964). Whereas molecular diseases may be considered to be those that result from alterations in the structure of proteins, controller gene diseases express changes in quantity of proteins without changes in their structure. Regulomics after Genomics: A Challenge for the 21st Century, Emile Zuckerkandl, Institute of Molecular Medical Sciences, International Union of Biological Sciences  Related terms regulome maps, regulomics, regulatory therapies

cryomedicine, cryotherapy: Unfortunately the “Cryomedicine”, “cryosurgery” and “cryotherapy” terms have not got any substantial definition expressing their scientific foundations. Today the “Cryomedicine” term incorporates the whole complex of physical methods of treatment based on the principle of heat derivation through action of liquid, rigid and gaseous working mediums. Namely, from wiping with water to ultralow temperatures action. Lack of precise definitions of the cryotherapy role, place and significance in medical practice, rehabilitation and sanitation technologies makes possible numerous ignorant, speculative and mutually executive statements to appear among supporters and antagonists of cryomedicine. Doctor Chernyshev I.S, Extreme Cryotherapy Position in Complex Treatment of Psoriasis and Other Chronic Dermatosis, “MED- KRYONIKA” Medical Centre, Moscow 

Related terms: antifreeze proteins: Protein categories;  cryobiology: Cell biology cryochemotherapy: Cancer;   cryoelectron microscopy: Microscopy; cryoelectron tomography: Molecular Imaging; cryogenic probe NMR & X-ray crystallography 

determinism (genetic): Philosophical doctrine that human action is not free but determined by external forces. [OED]

There has already been much debate about nature vs. nurture, and we clearly still have much to learn about the interplay among various influences.  The relevance of chaos theory and complexity seem likely to become increasingly clear. Note the reference to determinism in the second paragraph of this glossary.

One of  the more useful metaphors I've found is weather prediction. We are better now at predicting and reporting on hurricanes than we were 100 years ago, but are far from being able to control storms, or insure a sunny day when planning events.  We now have building codes for earthquake and hurricane prone areas (but can't predict earthquakes) and continue to build on flood plains and fragile barrier islands.  

disease etiology:   Disease is a fluid concept influenced by societal and cultural attitudes that change with time and in response to new scientific and medical discoveries. Historically, doctors defined a disease according to a cluster of symptoms. As their clinical descriptions became more sophisticated, they started to classify diseases into separate groups, and from this medical taxonomy came new insights into disease etiology. Larissa K. F. Temple, Robin S. McLeod, Steven Gallinger, James G. Wright ESSAYS ON SCIENCE AND SOCIETY: Defining Disease in the Genomics Era Science 3 August 2001: Vol. 293. no. 5531, pp. 807 - 808 DOI: 10.1126/science.1062938 

disease expression: When a disease genotype is manifested in the phenotype

disease interventions: Within the next decade, researchers will find most human genes. Explorations into the function of  each one - a major challenge extending far into the 21st century - will shed light on how faulty genes play a role in disease causation. With this knowledge, commercial efforts will shift away from diagnostics and toward developing a new generation of therapeutics based on genes. Drug design will be revolutionized as researchers create new classes of medicines based on a reasoned approach using gene sequence and protein structure function information rather than the traditional trial- and- error method. The drugs, targeted to specific sites in the body, promise to have fewer side effects than many of today's medicines. [Oak Ridge National Lab, US "Medicine and the new genetics, Feb. 2001]  Related terms: "good genes", "bad genes"; environmental factors  

disease management: A continuous, coordinated health care process that seeks to manage and improve the health status of a carefully defined patient population over the entire course of a disease. The patient populations targeted are high- risk, high- cost patients with chronic conditions that depend on appropriate pharmaceutical care for proper maintenance. Disease management services include disease prevention efforts as well as patient management once the disease states have developed. Tufts Center for the Study of  Drug Development, Glossary, 2004 

The somewhat graceless term the health care industry uses to describe efforts to monitor the medical problems of chronically ill patients while helping them stick to their treatment plans.  New Model for Disease Management, McKinsey Quarterly, No. 4, 2001   

disease markets: InSight Pharma Reports  

disease phenotypes: Disease related tissues, which now seem very similar (even to pathologists) may be quite distinguishable at the molecular level. Gene and protein expression analysis and interpretation studies, particularly at the whole genome level are just beginning to produce intriguing results, and the National Cancer Institute (US) and other places are working on comparisons of gene expression in "normal" and diseased tissues.  Improvements in technology are needed.  Higher throughput, greater reliability and reproducibility and more automation are among the challenges. Greater knowledge of population genetics and population genomics should also be useful. 

diseases: The human genome sequence will dramatically alter how we define, prevent, and treat disease. As more and more genetic variations among individuals are discovered, there will be a rush to label many of these variations as disease- associated. We need to define the term disease so that it incorporates our expanding genetic knowledge, taking into account the possible risks and adverse consequences associated with certain genetic variations, while acknowledging that a definition of disease cannot be based solely on one genetic abnormality. Disease is a fluid concept influenced by societal and cultural attitudes that change with time and in response to new scientific and medical discoveries. Historically, doctors defined a disease according to a cluster of symptoms. As their clinical descriptions became more sophisticated, they started to classify diseases into separate groups, and from this medical taxonomy came new insights into disease etiology. K Larissa et. al. "Defining Disease in the Genomics Era"  Science 293 (5531): 807- 808, Aug. 3, 2001 

Collections of symptoms and signs (phenotypes) that appear to be similar … Similar clinical phenotypes may have very different underlying mechanisms. As genetic capabilities increase, we will have additional tools to subdivide disease designations that are clinically identical. Allen D. Roses “Pharmacogenetics and future drug development and delivery” Lancet 355 (9212):1358- 1361 Apr 15, 2000 Related terms: diagnosis, disease phenotypes

Patient and disease related resources:
Patient resources, Molecular diagnostics, genomic & genetic testing

diseasome: Recently, Goh et al. (1) constructed a “diseasome network in which two diseases are linked to each other if they share at least one gene, in which mutations are associated with both diseases. In the resulting network, related disease families cluster tightly together, thus phenotypically defining functional modules. Importantly, for the first time this study applied concepts from network biology to human diseases, thus opening the door for discovering causal relationships between dysregulated networks and resulting ailments. PNAS vol. 105 no. 29: 9849–9850 July 16 2008 Networking metabolites and diseases  Pascal Braun*,,Edward Rietman*,§,Marc Vidal* 
The human disease network Kwang-Il Goh * ,   § , Michael E. Cusick    ,David Valle  Barton Childs  Marc Vidal    **, Albert-László Barabási * PNAS vol. 104 no. 21 8685–8690 May 22 2007

drug: Regulatory Narrower term: genomic drugs  

drug interactions: Examples of drug interaction terms include adverse drug interaction, drug- drug interaction, drug- laboratory interaction, drug- food interaction, etc. Drug interaction is defined as, "An action of a drug on the effectiveness or toxicity of another drug". .. Due to non- uniform usage of these terms, it is sometimes difficult to compare various studies and derive incidence rates, etc. for ADRs, and Drug Interactions   [Saeed A Khan, "Drug Interaction or Adverse Drug Reaction? Confusing Terms", British Medical Journal 10 July, 1998]
Related terms: Drug safety adverse drug event ADE, adverse drug reaction ADR

drug proteomics: Proteomics categories  
ecotoxicogenomics, ecotoxicology: Drug safety, pharmacovigilance and toxicology

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FDA draft guidelines - multiplex tests: Regulatory
Primarily considers microarrays, nucleic acid arrays, but principles apply to protein arrays and tissue arrays.

environmental factors: May include chemical, dietary factors, infectious agents, physical and social factors. Related term public health

epidemiology: Related terms: public health, environmental factors; Narrower terms: genomic epidemiology, human genome epidemiology, molecular epidemiology 

experimental medicine: The use of innovative measurements, models and designs in studying human subjects for establishing proof of mechanism and concept of new drugs, for exploring the potential for market differentiation for successful drug candidates, and for efficiently terminating the development of unsuccessful ones. Bruce H. Littman and Stephen A. Williams, The ultimate model organism: progress in experimental medicine, Nature Reviews Drug Discovery, 4(8): 631- 638 2005

functional foods:  "[F]oods and beverages with claimed health benefits based on scientific evidence". Health claims need to be substantiated scientifically. The future of functional foods will heavily rely on proven efficacy in well- controlled intervention studies with human volunteers. H Verhagen et. al, Assessment of the efficacy of functional food ingredients - introducing the concept "kinetics of biomarkers" Mutation Research 551(1-2): 65- 78, July 13, 2004 Related terms: nutrigenomics   Biomarkers

gene therapy: Biologics

genetic determinism: The theory that human CHARACTER and BEHAVIOR are shaped by the GENES that comprise the individual's GENOTYPE rather than by CULTURE; ENVIRONMENT; and individual choice. MeSH 2003 Was "behavioral genetics"

genetics: Refers to the study of heredity, gene and genetic material. However, genetics is also a term used in contrast to genomics because of its traditionally lower- throughput, smaller- scale emphasis on single genes, rather than on many genes simultaneously as in genomics. CHA Cambridge Healthtech Advisors, Clinical Genomics: The Impact of Genomics on Clinical Trials and Medical Practice report, 2004

Clearly defined terminology should form the basis for informative discussions so that the word ‘genetics’ is not demonized.  For example, tests that are specific to disease genes can help diagnose disease, determine the carrier status of an individual or predict the occurrence of disease. These are quite distinct from profiles ... which provide information on how a medicine will be metabolized in an individual. … Language needs to be more precise so that there can be clarity, especially for public policy debates.  Allen D. Roses “Pharmacogenetics and the practice of medicine” Nature 405: 857- 865 June 15 2000   Related terms: Genetic testing "good genes" "bad genes"", predisposition, susceptibility, public health,  heterozygous, homozygous  Narrower term cytogenetics

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global health: The Common Fund Global Health program reflects a growing impetus to bolster global health efforts worldwide and to expand priorities to address not only infectious diseases, such as HIV/AIDS, malaria and tuberculosis, but also chronic, non-communicable diseases and injuries, emerging behavioral, mental health and drug abuse issues, and neglected tropical diseases. The Institute of Medicine’s 2009 report on the U.S. Commitment to Global Health: Recommendations for the New Administration urges the United States to increase its commitment in global health to $15 million by 2012. In May 2009, President Obama launched the U.S. Global Health Initiative with $63 billion in new funding over the next five years to help some of the poorest nations of the world fight health challenges and save lives. Global Health NIH Common Fund 

global health inequities: An open licensing approach:  Amy Kapczynski, Samantha Chaifetz, Zachary Katz, and Yochai Benkler, San Francisco, CA 

glycogerontology:  Most of the proteins produced by the human body contain sugar chains, whose importance as biosignals for multi- cellular organisms was revealed by the recent development of the new field of glycobiology. Since sugar chains are formed as secondary gene products by the concerted action of glycosyltransferases, the structures of sugar chains are less strictly regulated than proteins. Accordingly, most of the biosignals associated with sugar chains are not essential for the maintenance of life itself, but are necessary to maintain the ordered social life of cells constructing multi- cellular organisms. Hence, investigation of structural changes of sugar chains that is caused by aging is expected to produce quite a lot of useful information pertaining to the elucidation of diseases induced by aging. A.  Kobata, Glycobiology in the field of aging research -- introduction to glycogerontology, Biochimie. 85 (1-2): 13- 24, Jan- Feb 2003

health disparities: differences in the incidence, prevalence, mortality, and burden of diseases and other adverse health conditions that exist among specific population groups in the United States. ... The first attempt at an official definition for "health disparities" was developed in September 1999, in response to a White House initiative. Center to Reduce Cancer Health Disparities, National Cancer Institute, NIH . 

In 2000, United States Public Law 106-525, also known as the "Minority Health and Health Disparities Research and Education Act," which authorized the National Center for Minority Health and Health Disparities, provided a legal definition of health disparities: A population is a health disparity population if there is a significant disparity in the overall rate of disease incidence, prevalence, morbidity, mortality or survival rates in the population as compared to the health status of the general population.Minority Health and Health Disparities Research and Education Act United States Public Law 106-525 (2000), p. 249  Narrower term: Cancer cancer health disparities

high-dimensional brain mapping: Maps & Mapping

human gene transfer: the process of transferring genetic material (DNA or RNA) into a person. This experimental technique is being studied to see whether it could treat certain health problems by either compensating for defective genes, prompting the body to make a potentially therapeutic substance, or triggering the immune system to fight disease. This type of experimentation is sometimes called "gene therapy" research.   NIH Backgrounder on Gene Transfer, 2004    Related 
term: gene therapy
Backgrounder Human gene transfer for one form of childhood blindness
NIH Guidance for informed consent on human gene transfer 

human genome epidemiology: An evolving field of inquiry that uses systematic applications of epidemiologic methods and approaches in population based studies of the impact of human genetic variation on health and disease. Human genome epidemiology represents the intersection between genetic epidemiology and molecular epidemiology. The spectrum of topics addressed in human genome epidemiology range from basic to applied population based research on discovered human genes. HuGE Net, Centers for Disease Control and Prevention, US

Medbiquitous Consortium: Technology standards based on XML and webservices. 

medical errors - reducing: Background Brief: Reducing Medical Errors, Kaiser Permanente, 2006 

medical proteomics: Proteomic technologies will play an important role in drug discovery, diagnostics and molecular medicine because is the link between genes, proteins and disease. As researchers study defective proteins that cause particular diseases, their findings will help develop new drugs that either alter the shape of a defective protein or mimic a missing one.

Already, many of the best-selling drugs today either act by targeting proteins or are proteins themselves. Advances in proteomics may help scientists eventually create medications that are “personalized” for different individuals to be more effective and have fewer side effects. Current research is looking at protein families linked to diseases including cancer, diabetes and heart disease. American Medical Association, "Proteomics" How can proteomics be applied to medicine?  

medical resequencing: Key parts of suspect genes are sequenced and compared between patients and controls to identify genetic variations that may contribute to disease. Richard Gibbs, "Deeper into the genome" Nature 7063:1233- 1234, 27 Oct. 2005 

molecular anatomy:

proposed in the late 1970s and early 1980s by Anderson NG, Anderson NL (1980) Automatic Chemistry and the Human Protein Index, J. Autom. Chem. 2: 177-179. 2.Anderson NG, Anderson NL (1982) The Human Protein Index, Clin. Chem 28(4): 739-748.    

molecular epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples. MeSH, 1994

Looking at epidemiology from a genetic and biochemical viewpoint. Narrower term: genomic epidemiology

molecular medicine:  Coverage includes genetic testing vaccines pathogenesis epidemiology genomics gene therapy drug design diagnostics and techniques. Expert Reviews in Molecular Medicine, Cambridge Univ. Press 

The Journal of Molecular Medicine publishes reports describing major advances in the understanding, prevention, diagnosis, or treatment of human disease through the application of molecular biology and gene technology, a research discipline that has become known as molecular medicine.. Journal of Molecular Medicine, Springer, Aims and Scope

Recent advances in molecular and cell biology have enormous potential for medical research and practice.  Initially they were most successfully exploited for determining the causes of genetic diseases and how to control them.  However, it is now clear that recombinant DNA technology is finding applications in almost every branch of medical practice.  It is revolutionising cancer research, offers new approaches to vaccines, has spawned a biotechnology industry that is already producing a wide range of diagnostic and therapeutic agents and, in the longer term, promises to play a major role in clarifying the causes of some of the unsolved mysteries of modern medicine: heart disease, hypertension, major psychiatric illness, rheumatic disease and many others.  It should also help us gain insights into broader aspects of human biology, including development, ageing and evolution.  Wetherall Institute of Molecular Medicine, Univ. of Oxford, UK    Related terms: clinical proteomics, translational medicine

molecular therapeutics: Current Opinion in Molecular Therapeutics "covers the broad field of molecular medicine, including viral and non-viral gene therapy, oligonucleotides, peptide therapeutics, antibody approaches, molecular vaccines, and the technologies underlying genomics and proteomics." BioMedCentral   

morbidity - compressing: Ultimately only premature mortality can be reduced (in various ways such as by stopping smoking, wearing seatbelts and helmets). With a number of (first world) countries having rapidly aging populations we are just beginning to see some of the tradeoffs involved in extending longevity for a number of people.  

mortality - reducing: In the long run mortality is going to be 100%, and every family has a history of it.  Compressing morbidity may be a more realistic goal.  Reducing premature mortality (by improving rates of seat belt wearing, reducing smoking and alcohol use and gun control) is a more sustainable goal.  

nanomedicine: The goal of the Common Fund's Nanomedicine program is to determine how cellular machines operate at the nanoscale level and then use these design principles to develop and engineer new technologies and devices for repairing tissue or preventing and curing disease. Nanomedicine, NIH Common  Fund 

A rapidly expanding field that includes many potential technologies and approaches. The key to this definition is that phenomena and materials at the nanometer scale are known to have properties that are uniquely attributable to that scale length. Nanomedicine could similarly be defined [as nanotechnology] as the design, synthesis, or application of materials, devices, or technologies in the nanometer-scale for the basic understanding, diagnosis, and / or treatment of disease.  Canadian Institute of Health Research, Regenerative Medicine and Nanomedicine, RFA, 2003 

The monitoring, repair, construction and control of human biological systems at the molecular level, using engineered nanodevices and nanostructures. [Robert A. Freitas, Nanomedicine, Foresight Institute, 1998- 2002]    

Nanomedicine taxonomy

National Institute of General Medical Sciences NIGMS: Part of NIH, supports biomedical research not targeted to specific diseases or disorders. Divisions of Cell Biology and Biophysics; Genetics and Developmental Biology; and Pharmacology, Physiology, and Biological Chemistry support research  

normal: That we can walk around with all of this stuff. It's almost liberating—the fact that there is no perfect genome—that all of us are made up of deletions and structural changes and copy number variations.  It's amazing that any of us are “normal”. And maybe none of us really are—and that's the beauty of it! Gitschier J (2008) Stable in a Genome of Instability: An Interview with Evan Eichler. PLoS Genet 4(7): e1000124. doi:10.1371/journal.pgen.1000124

Defining "normal" is a major problem," stated Dr. [Julio] Celis. As many researchers know, the pathology of samples can be open to interpretation, and robust parameters must be delineated and adhered to when defining normal versus various stages of pathology. Defining the Mandate of Proteomics in the Post- Genomics Era, Board on International Scientific Organizations, National Academy of Sciences, 2002  Related terms: Microarrays normality, normalization

nutraceuticals: Foods with specific health or medical benefits. Differentiate from supplements, which supplies missing nutrients. Examples include folic acid (to prevent birth defects) or pectin (to lower cholesterol) and fiber (to reduce the risk of color cancer). Sometimes spelled nutriceutical.

nutrigenomics: The science of nutrition and genomics has advanced to a point where it is driving the emergence of nutrigenomic products, some of which are unique and patentable, that cross traditional pharma, biotech, and food industry boundaries. The billions of genome base pairs that are being identified, and the spiraling public health costs associated with nutritional and lifestyle diseases such as diabetes and obesity, are two forces fueling the field of nutritional genomics. Between 2000 –  2010, the number of global cases of diabetes is projected to increase 46%, rising from 15.1 million to 22.1 million. In 2004, in the US alone, medical care costs were estimated to be $132 billion for diabetes and $117 billion for obesity. Nutrigenomics may have a role to play in managing these and other diseases. A few personalized nutrigenetic test products have emerged and attracted considerable media attention, but what are some of the other diagnostic technologies, and how, if at all, will ag-biotech products fit into the nutrigenomic landscape? Impact Pharma Reports Nutrigenomics: Impacts on Markets, Diets, and Health report, 2005

Embedded in classical nutrition and food technology science, it incorporates the new generation of applied genomics tools (cDNA microarray analysis of the transcriptome, proteomics, metabolomics).  Nutrigenomics: an overview, TNO, Nutrition and Food Research, Netherlands

Seeks to provide a molecular understanding for how common dietary chemicals (i.e., nutrition) affect health by altering the expression and/or structure of an individual’s genetic makeup. The conceptual basis for this new branch of genomic research can best be summarized by the following Five Tenets of Nutrigenomics: Under certain circumstances and in some individuals, diet can be a serious risk factor for a number of diseases. Common dietary chemicals can act on the human genome, either directly or indirectly, to alter gene expression or structure. The degree to which diet influences the balance between healthy and disease states may depend on an individual’s genetic makeup. Some diet- regulated genes (and their normal, common variants) are likely to play a role in the onset, incidence, progression, and/or severity of chronic diseases. Dietary intervention based on knowledge of nutritional requirement, nutritional status, and genotype (i.e., "personalized nutrition") can be used to prevent, mitigate or cure chronic disease. Nutrigenomics, Univ. of California Davis, US, 2004  

nutritional genomics: Has been used for decades for certain monogenic diseases; however, the challenge is to implement a similar concept for common multifactorial disorders and to develop tools to detect genetic predisposition and to prevent common disorders decades before their manifestation. The preliminary results involving gene- diet interactions for cardiovascular diseases and cancer are promising, but mostly inconclusive. Success in this area will require the integration of different disciplines and investigators working on large population studies designed to adequately investigate gene- environment interactions. JM Ordovas, D Corella, Nutritional genomics. Annual Review Genomics Human Genetics 5: 71-118, 2004

The molecular basis by which nutrients influence cancer prevention and provide examples for genomic/proteomic approaches to the science of nutrition.  National Cancer Institute, US, Nutritional Genomics and Proteomics in Cancer Prevention Conference, Sept. 5-6, 2002, Bethesda MD

Related terms: agricultural genomics, food genomics, plant genomics

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personalized medicine:  As defined by the President’s Council on Advisors on Science and Technology, “Personalized Medicine” refers to the tailoring of medical treatment to the individual characteristics of each patient…to classify individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment.  Preventative or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not. About the Personalized Medicine Coalition

The increased emphasis on personalized therapy has affected the entire process of drug discovery, development and marketing. Pharmaceutical companies must adjust their strategies, starting from target identification to validation, clinical trials, approval processes, and marketing in order to fit into the new concept. Successful collaboration with diagnostics partners has become a cornerstone in the efforts to bring to the market tailored and targeted therapies, with companion tests helping to match the right drug to the right patient. 

phenotypic prevention: Achieved by interrupting harmful interaction of environmental cofactors with human genetic variation or by using gene therapy to correct deficiencies in gene products. Genetics and Public Health in the 21st century, CDC Centers for Disease Control and Prevention, US   Related terms environmental factors, molecular epidemiology, public health. 

physiogenomics, physiome, physiomics: -Omes & -omics
pleiotropy tests: See under regulatory therapies

precision medicine: A more targeted approach to disease – is already becoming a reality in cancer, where molecular diagnosis is leading to better defined, individualized treatments with improved outcomes. Precision medicine is also the basis for planning large-cohort studies, using genomics and phenotyping (physiological and behavioral characteristics) to improve diagnostics and therapeutics across medicine.  The idea is to integrate clinical data with other patient information to uncover disease subtypes and improve the accuracy with which patients are categorized and treated. Brain disorders? Precisely: Precision medicine comes to psychiatry. Thomas R. Insel and Bruce N. Cuthbert, Science 1 May 2015 Vol. 348 no. 6234 pp. 499-500 
DOI: 10.1126/science.aab2358

Many believe that personalized medicine technologies, such as next-generation sequencing, have propelled us to the tipping point of a new era in healthcare - precision medicine. Stakeholders are now faced with the perplexing economic and regulatory issues of balancing the promise of new genome-driven medicines with the associated trade-offs of longer and higher development risk for Rx and CDx innovators, increased evidence standards for regulators, reimbursement concerns for patients, and unclear value for payers. 

public health genomics:
Public health genomics has been defined as The responsible and effective translation of genome-based knowledge for the benefit of population health. (Bellagio workshop, April 2005) PHG Foundation, UK 

A multidisciplinary field concerned with the effective and responsible translation of genome-based knowledge and technologies to improve population health. Public health genomics uses population-based data on genetic variation and gene-environment interactions to develop evidence-based tools for improving health and preventing disease. National Office of Public Health Genomics, CDC 

There is much talk of  the world as a global village these days. Nowhere is that more true than in public health.  It is not just third world countries that need to be concerned about vaccines, herd immunity and drug resistance. Early intervention and epidemiological investigation of environmental factors hold promise for better understanding the complex interplay of variables in individual and public health. Related terms:  morbidity (compressing), mortality (reducing), phenotypic prevention.  

Genomics and World Health, World Health Organization, 2002 
Public Health and Health Care Administration Glossary of Terms 1999,
Genetics and Public Health in the 21st century
, CDC Centers for Disease Control and Prevention, US   The term "public health genetics" seems to be used primarily in the United States, while "community genetics" is more widely used in Europe.
Genomic Competencies for the Public Health Workforce
, CDC Centers for Disease Control and Prevention, US, 2001     Information about the role of genes in health and disease is evolving rapidly because of the mapping of all human genes by the Human Genome Project. The number and types of genetic tests and services now available commercially are growing exponentially, and public health workers are increasingly aware of the potential role of genetic information in preventing common diseases. Everyone involved in public health should become aware of these advances and begin to incorporate genomic competencies into their public health specialties
Public Health Genetics
, Cambridge UK   News and information about advances in genetics and their impact on public health and the prevention of disease.

Other patient and disease related resources: See Cancer genomics, Genetic & genomic testing, Patient resources

regenerative medicine: A field of medicine concerned with developing and using strategies aimed at repair or replacement of damaged, diseased, or metabolically deficient organs, tissues, and cells via TISSUE ENGINEERING; CELL TRANSPLANTATION; and ARTIFICIAL ORGANS and BIOARTIFICIAL ORGANS and tissues.  MeSH 2004 

Embryonic stem cells are a unique type of cell because they are "pluripotent", that is, they can divide and grow in to any type of adult cell type e.g. heart cells, bone cells, or neurons. They therefore hold great potential in repairing tissue damaged by disease or injury. A recent discovery showed that a type of adult stem cell resembling an embryonic stem cell can be made by using viruses to ferry specific genes in to skin cells that induce these cells to revert to a pluripotent cell state These so called "induced pluripotent stem cells" or iPS cells are just one type of adult stem cell that can be explored for use in cellular therapies.  The Common Fund is supporting the establishment of an NIH Center for Regenerative Medicine (NCRM) to serve as a stem cell resource for the scientific community, providing stem cells, as well as the supporting protocols and standard operating procedures used to derive, culture, and differentiate them in to different cell types. NIH Center for Regenerative Medicine, NIH Common Fund 

Regenerative medicine is a broad definition for innovative medical therapies that will enable the body to repair, replace, restore and regenerate damaged or diseased cells, tissues and organs. Scientists worldwide are engaged in research activities that may enable repair of damaged heart muscle after a heart attack, replacement of skin for burn victims, restoration of movement after spinal cord injury and regeneration of pancreatic tissue to produce insulin for people with diabetes. Regenerative medicine promises to extend healthy life spans and improve the quality of life by supporting and activating the body’s natural healing. This broad field encompasses a variety of research areas including cell therapy, tissue engineering, biomaterials engineering, growth factors and transplantation science.
Pall Corp. FAQs Cell therapy and regenerative medicine  

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therapy ladders: Sequential uses of combination protocols consisting of drugs that have been available for a long time (and are generically available in most cases) and are frequently also used for the treatment of solid tumors.  Insight Pharma Reports,. Hematological Cancer Therapeutics: Pipelines and Competition, 2005

translational medicine:  Recent advances in biological understanding are allowing pharmaceutical companies to begin to develop tailored therapeutics, thereby allowing patients to receive the right drug, at the right dose, and at the right time. However, in order for such treatments to be developed, companies need to be able to better link data from the laboratory to the clinic (bench to bedside). This concept is frequently referred to as translational medicine.  Semantic Web Health Care and Life Sciences SIG Charter, 2008 

the integrated application of innovative pharmacology tools, biomarkers, clinical methods, clinical technologies and study designs to improve disease understanding, confidence in human drug targets and increase confidence in drug candidates, understand the therapeutic index in humans, enhance cost-effective decision making in exploratory development and increase phase II success. What's next in translational medicine? Littman BH, Di Mario L, Plebani M, Marincola FM. What's next in translational medicine? Clin Sci (London) 112 (4): 217- 227, Feb 2007   Related terms: clinical proteomics, molecular medicine, translational research: Research  

translational science: As the biopharma industry faces the challenge of increasing cost of drug development, increasing emphasis is placed on strategies to accelerate clinical development, reduce late-stage attrition and pursue innovation through collaboration. Clinical and Translational Science Awards: The CTSA program has focused on the development of infrastructure and resources to facilitate translational research, to promote the training and career development of translational researchers, and to develop innovative methods and technologies to strengthen translational research.

uncertainty: The condition in which reasonable knowledge regarding risks, benefits, or the future is not available. MeSH 2003

An event or outcome that is not certain but may or may not happen is uncertain. When the uncertainty is quantified on the basis of empirical observations, it is called risk. Bandolier EBM Evidence Based Medicine Glossary

Despite the extensive body of evidence that informs regulatory decisions on pharmaceutical products, significant uncertainties persist, including the underlying variability in human biology, factors associated with the chemistry of a drug, and limitations in the research and clinical trial process itself that might limit the generalizability of results. As a result, regulatory reviewers are consistently required to draw conclusions about a drug's safety and efficacy from imperfect data. Efforts are underway within the drug development community to enhance the evaluation and communication of the benefits and risks associated with pharmaceutical products, aimed at increasing the predictability, transparency, and efficiency of pharmaceutical regulatory decision making. Effectively communicating regulatory decisions necessarily includes explanation of the impact of uncertainty on decision making.This report explores potential analytical and communication approaches and identifies key considerations on their development, evaluation, and incorporation into pharmaceutical benefit- risk assessment throughout the entire drug development lifecycle. Institute of Medicine. Characterizing and Communicating Uncertainty in the Assessment of Benefits and Risks of Pharmaceutical Products: Workshop Summary. Washington, DC: The National Academies Press, 2014.

The shift to a post- Mendelian view of genetics (with variable penetrance and eventually, insights into polygenic diseases) and genomics seems likely to result in more uncertainty, not less, at least for some time.  Related term: Business  risk management

vaccines: Biologics

women's health: For many years, women were not included as participants in clinical research and, even when women were included, gender differences in outcomes were not examined. Although the focus of our work is on women’s health, Women’s Health Research at Yale generates scientific investigations on gender differences that broaden the scope of knowledge on all human health.  Women's Health Research at Yale. 

world health: In the coming decades, information generated by genomics will have major benefits for the prevention, diagnosis and management of many diseases which have been difficult or impossible to control. At the same time, this new field presents a series of highly complex scientific, economic, social and ethical issues.  Genomics and World Health, WHO, 2002

Bandolier EBM Evidence Based Medicine Glossary
Cochrane Collaboration, Glossary of Terms in the Cochran Collaboration 2014 
Evidence Based Medicine Glossary, Mt. Sinai Hospital, 30+ terms, US, 2000
Health Care Delivery & Financing Terms, Academy for Health Services Research and Health Policy, US, 2003, about 300 terms.
IUPAC Glossary of bioanalytical nomenclature - Part 1: General terminology, body fluids, enzymology, immunology Recommendations 1994 
Nature Clinical Practice Glossary,  
Neuroscience, Neurology and Psychiatry Gateway, BioMedCentral 
NIH Human Subjects Research Definitions,  2004 
Public Health and HealthCare Administration Glossary of Terms, Health Services Library and Information Center, Univ. of Washington, US1999, 300+ terms

Healthcare Conferences
BioIT World Expo
Molecular Medicine Tri Conference
Healthcare CDs, DVDs Short courses
Molecular Med Monthly archive

Insight Pharma Reports Healthcare series 
Insight Pharma Reports, Clinical Genomics: The Impact of Genomics on Clinical Trials and Medical Practice report, 2004 

Patient and disease related resources: Patient resourcesCancer  Genetic testing

Alpha glossary list

How to look for other unfamiliar  terms

IUPAC definitions are reprinted with the permission of the International Union of Pure and Applied Chemistry.

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