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Guide to terms in these glossaries  Genomic applications map,  Site Map
Related glossaries include Ethics; Sub-categories  Biomarkers   Cancer diagnostics, prognostics & therapeutics   Drug safety & pharmacovigilance   Molecular diagnostics, genetic & genomic testing   Therapeutic areas including cardiovascular, CNS, immunology, infectious diseases & inflammation  
Applications  Functional genomics   Metabolic engineering   Pharmacogenomics   Proteomics
Technologies  Biomaterials   Microarrays & protein chips   Nanoscience & miniaturization
Biology  Gene definitions   SNPs & other Genetic Variations  
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."  http://www.sciencemag.org/cgi/content/full/291/5507/1304

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.

behavioral genetics: Human behavioral genetics, a relatively new field, seeks to understand both the genetic and environmental contributions to individual variations in human behavior. That is not an easy task ... It often is difficult to define the behavior in question. ... Having established a definition for research purposes, the investigator still must measure the behavior with acceptable degrees of validity and reliability. ... Behaviors, like all complex traits, involve multiple genes, a reality that complicates the search for genetic contributions. As with much other research in genetics, studies of genes and behavior require analysis of families and populations for comparison of those who have the trait in question with those who do not. The result often is a statement of "heritability," a statistical construct that estimates the amount of variation in a population that is attributable to genetic factors. [Oak Ridge National Lab, US "Behavioral Genetics" 2001]  http://www.ornl.gov/hgmis/elsi/behavior.html

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] http://www.sciencemag.org/cgi/content/full/291/5507/1232

Related terms: behavioral genetics; Genetic testing glossary "designer babies"

biological therapy: Cancer genomics glossary

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 http://www.bmgc.umn.edu/about.html

Google = about 473 Mar. 10, 2003; about 701 Apr. 28, 2004; about 15,400 Nov 10, 2006

biomedical informatics: http://en.wikipedia.org/wiki/Biomedical_informatics 

Google = about 14,900 May 8, 2003; about 37,400 Apr. 28, 2004; about 670,000 Nov 10, 2006, about 372,000 Jan 2, 2008

Related terms: medical informatics

camera pill: http://www.fda.gov/bbs/topics/ANSWERS/2001/ANS01094.html

Google = abut 1630 May 8, 2003; about 2,160 June 10, 2004; about 15,500 Nov 10, 2006

Also known as "video pill", "capsule endoscope" WordSpy http://www.wordspy.com/ June 26, 2003

cancer genomics: Cancer genomics glossary 

cell therapeutics: Cell technologies & therapies

channelopathy: Wikipedia http://en.wikipedia.org/wiki/Channelopathy  includes list of examples.

Google = about 2220 May 8, 2003; about 109,000 Nov 10, 2006

Related term: Pharmaceutical biology glossary ion channels

chemotherapy: Cancer genomics glossary

chronobiology: See under chronopharmacology

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] http://www.nel.edu/20_12/nel20_12%20Chronome%20Chrone.htm

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

Google = about 494 May 8 2003; about 16,800 Nov 10, 2006

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]

Google = about 184 May 8, 2003, about 412 Aug. 17, 2005; about 768 Nov 10, 2006

Narrower terms: bacterial chronomics, cardio-chronomics

chronopharmacokinetics: Pharmacokinetic parameters are generally assumed to be invariate with the time of day, although circadian variation of drug metabolism and drug response is known. As proposed, chronopharmacokinetics considers the implications of the chronovariability of pharmacokinetic parameters. In order to investigate chronovariation in the rate of disappearance of a substance from the approximate a linear course until very low blood levels are attained. ... It is concluded that: 1) rhythmicity within elimination curves can only be determined by repetition of the experiment at different times of the diel period; 2)the expectation that a rate-constant estimated at one time of the day may be valid for another part of the day carries with it an unknown risk. No pharmacokinetic analysis can be considered definitive unless chronopharmacokinetic variation of parameters is considered. FM Sturtevant, Chronopharmacokinetics of ethanol. I. Review of the literature and theoretical considerations, Chronobiologia 3(3): 237- 262, Jul-Sept 1976

Google = about 163 May 8, 2003; about 315 June 10, 2004, about 668 Aug. 17, 2005; about 942 Nov 10, 2006

chronopharmacology:  The science dealing with the phenomenon of rhythmicity in living organisms is called chronobiology. The branch dealing with the pharmacologic aspects of chronobiology is termed chronopharmacology, which may be subdivided into chronotherapy, chronopharmacokinetics and chronotoxicity. WA Ritschel, H Forusz, Chronopharmacology: a review of drugs studied, Methods Find Exp Clin Pharmacology 16(1): 57- 75, Jan-Feb 1994

Google = about 5,670  Aug. 17, 2005; about 30,800 Nov 10, 2006

Related terms; Pharmacogenomics

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 

Google = about 264 May 8, 2003, about 14,800 Aug. 17, 2005; about 65,700 Nov 10, 2006

clinical development: Insight Pharma reports http://www.insightpharmareports.com/clinical.asp  

clinical endpoint: Biomarkers

Google = about 2930 May 8 2003; about 5,600 June 10, 2004; about 50,500 Nov 10, 2006

clinical genomics: Drug approvals glossary

Google = about 1470 May 8, 2003; about 2,910 Mar. 23, 2004; about 3,740 June 10, 2004

Related terms: molecular diagnostics, molecular medicine

clinical healthcare informatics: Within the domain of clinical healthcare informatics, AMIA seeks to transform healthcare and enhance human health through a creative and innovative use of informatics with respect to applications of communications and information technology. This will be accomplished through a well educated and properly trained informatics workforce, an enhanced performance of health care processes and systems, relevant public policy, and a relevant research agenda. Strategic Plan, American Medical Informatics Association, 2007 http://www.amia.org/inside/stratplan/ 

clinical informatics:  Informatics overview  

Google = about 6530 May 8, 2003; about 15,400 June 10, 2004; about 216,000 Nov 10, 2006

clinical ontologies: Ontologies are correctly defined as hierarchies of concepts but are frequently applied to mean controlled syntax, database schema, semantic networks or thesaurus. In using an ontological approach to extract knowledge about disease progression and disease presentation, including co-morbidities, we have extended the approach of ontology construction to incorporate critical temporal domains. Towards this goal, we have applied LexiMine (SPSS) as a method for syntactical analysis of free text to establish the value in the analysis of full articles versus abstracts in knowledge extraction. Ontologies in Breast Cancer: Concepts vs. Words, Dr. Michael Liebman, Director, Computational Biology and Biomedical Informatics, Professor, Cancer Biology, Abramson Cancer Center of the University of Pennsylvania Data Integration for the Pharmaceutical Industry, Sept. 24-25, 2003, Baltimore MD order CD?

Google = about 50 May 29, 2003; about 74 June 10, 2004; about 332 Nov 10, 2006

clinical 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 http://www.nap.edu/books/NI000479/html/R1.html

Google = about 666 May 8, 2003; about 3,990 Apr. 28, 2004, about 19,400 Aug. 22, 2005; about 102,000 Nov 10, 2006

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 http://grants.nih.gov/grants/funding/PHS398/instructions2/p2_human_subjects_definitions.htm 

Related terms: clinical genomics, translational research, translational medicine

clinical trials: Drug approvals & clinical trials glossary

clinomics: The application of oncogenomic research. [Daniel von Hoff, Univ. of Arizona "All hands on deck at dawn" Nature Genetics 27 (4): 347-349, April 2001]

Google = about 198 May 8, 2003; about 587 June 10, 2004, about 664 Aug. 22, 2005

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 http://observer.guardian.co.uk/magazine/story/0,11913,1534827,00.html 

Google = about 652 Dec. 6, 2004, about 910 Aug. 22, 2005; about 898 Nov 10, 2006

Related terms: neuroceuticals, neuropharmaceuticals

combination drug/diagnostics, combination products, combination therapies: Drug Discovery & Development glossary

combination therapies & diagnostics: Insight Pharma Reports forthcoming 2009

computational physiology: In Silico & Molecular Modeling glossary

computational therapeutics:  An emerging biomedical field. It is concerned with the development of techniques for using software to collect, manipulate and link biological and medical data from diverse sources.   It is also concerned with the use of such information in simulation models to make predictions or therapeutically relevant discoveries or advances. (Referred to by some as in silico pharmacology) C. Anthony Hunt Lab, Biosystems at Univ. of California, San Francisco, http://biosystems.ucsf.edu/ 

Google = about 310 June 10, 2004, about 1,700 Aug. 22, 2005 

consumer genomics: See under personal genomics

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 http://www.iubs.org/test/bioint/41/16.htm

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 http://www.medcryonika.ru/eng/psoriaz.htm 

Google = about  435 for cryomedicine Sept. 23, 2004; about 10,900 Apr 6, 2007
about 63,800 for cryotherapy Sept. 23, 2004; about 902,000 Apr 6, 2007

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

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.

Google "genetic determinism" = about 6,190 May 8, 2003

diagnomics^TM, diagnosis, diagnostics: Molecular diagnostics, genetic & genomic testing glossary

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  http://www.sciencemag.org/cgi/content/full/293/5531/807 

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

Google = about 3,230 May 8, 2003; about 191,000 Nov 10, 2006

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] http://www.ornl.gov/hgmis/medicine/medicine.html  

Related terms: "good genes", "bad genes"; environmental factors  Narrower terms:  gene therapy. Drug approvals glossary biologics, drug

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  http://csdd.tufts.edu/InfoServices/Glossary.asp 

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  

Google = about 230,000 May 8, 2003; about 1,570,000 Nov 10, 2006

disease markers: Biomarkers glossary

disease markets: InSight Pharma Reports http://www.insightpharmareports.com/Reports/TherapeuticPipelinesAndDiseaseMarkets.aspx  

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. 

Google = about 1,950 May 8, 2003; about 118,000 Nov 10, 2006

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   http://www.sciencemag.org/cgi/content/full/293/5531/807 

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

drug:  Drug approvals 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] http://bmj.com/cgi/eletters/316/7149/1930

Google = about 241,000  May 8, 2003; about 1,740,000 Nov. 10, 2006

Related terms: Drug safety adverse drug event ADE, adverse drug reaction ADR

drug proteomics: Proteomics categories

Google = about 29  May 8, 2003; about 112 Nov 10, 2006

ecotoxicogenomics, ecotoxicology: Drug safety, pharmacovigilance and toxicology

EHR Electronic Health Record:  A real- time patient health record with access to evidence- based decision support tools that can be used to aid clinicians in decision- making.  The EHR can automate and streamline a clinician's workflow, ensuring that all clinical information is communicated.  It can also prevent delays in response that result in gaps in care. The EHR can also support the collection of data for uses other than clinical care, such as billing, quality management, outcome reporting, and public health disease surveillance and reporting. US Dept. of Health & Human Services,  Health IT Strategic Framework, Glossary, 2004, http://www.hhs.gov/onchit/framework/hitframework/glossary.html 

evidence based medicine:  Evidence-based medicine is defined in the Roundtable’s charter to mean that: to the greatest extent possible, the decisions that shape the health and health care of Americans– by patients, providers, payers and policymakers alike—will be grounded on a reliable evidence base, will account appropriately for individual variation in patient needs, and will support the generation of new insights on clinical effectiveness.  Institute of Medicine, Round Table on Evidence Based Medicine  http://www.iom.edu/CMS/AboutIOM/28189.aspx  

FDA draft guidelines - multiplex tests: Drug and device approvals glossary 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 

epigenomics: Imbalances in DNA methylation and histone acetylation play a significant role in the development of cancer and other disease states such as inflammation. This provides a rationale for targeting epigenetic modification for drug discovery, as well as epigenomic profiling for biomarker and diagnostic development. This conference aims to highlight recent technologies facilitating profiling of methylation patterns, an understanding of HDAC and methyl transferase enzymes and biomarker identification to monitor drug effects, toxicity and effective dose for therapeutic intervention as well as diagnostic and prognostic tools in cancer and other disease states  Epigenomics March 19-20, 2007 • San Diego, CA order CD/

ethics: Ethics 

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

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-based therapy: Therapies using or targeting genes, antisense or naked DNA.  

Related terms: cellular therapy, gene therapy,  transfection.

Google = about 663 May 8, 2003. about 789 Apr. 27, 2005; about 24,800 Nov 10, 2006

gene therapy: The concept of gene therapy has long appealed to biomedical researchers and clinicians because of the promise to treat certain diseases at their origin. However, negative results and publicity have necessitated a low profile for gene therapy research. Researchers are, in fact, quietly making progress and are confident that gene transfer will be elevated from its current experimental status to a therapeutic modality. Scientifically, major challenges remain: targeting the right gene to the right location in the right cells and expressing it at the right time, all while minimizing any adverse reactions. In addition, collaborations between academia and industry are of critical importance for the future of gene therapy. Substantial knowledge as well as regulatory and financial resources is needed to move gene therapy from small-scale endeavors to clinical use. Targeting gene therapy & gene transfer: Translation from Basic Research to Clinical Results , Beyond Genome, June 9- 11, 2008 • San Francisco, CA order CD

An evolving technique used to treat inherited diseases. The medical procedure involves either replacing, manipulating, or supplementing nonfunctional genes with healthy genes. [NHGRI]

The introduction of new genes into cells for the purpose of treating disease by restoring or adding gene expression. Techniques include insertion of retroviral vectors, transfection, homologous recombination, and injection of new genes into the nuclei of single cell embryos. The entire gene therapy process may consist of multiple steps. The new genes may be introduced into proliferating cells in vivo (e.g., bone marrow) or in vitro (e.g., fibroblast cultures) and the modified cells transferred to the site where the gene expression is required. Gene therapy may be particularly useful for treating enzyme deficiency diseases, hemoglobinopathies, and leukemias and may also prove useful in restoring drug sensitivity, particularly for leukemia. MeSH, 1989

Gene therapy is in its infancy, and current gene therapy is primarily experimental, with most human clinical trials only in the research stages. ... Gene therapy can be targeted to somatic (body) or germ (egg and sperm) cells. In somatic gene therapy the recipient's genome is changed, but the change is not passed along to the next generation. In germline gene therapy, the parents egg and sperm cells are changed with the goal of passing on the changes to their offspring. Germline gene therapy is not being actively investigated, at least in larger animals and humans, although a lot of discussion is being conducted about its value and desirability.

Many people falsely assume that germline gene therapy already is being done with regularity.  News reports of parents selecting a genetically tested egg for implantation or choosing the sex of  their unborn child may lead the public to think that gene therapy is occurring. Actually, in these cases, genetic information is being used for selection. No cells are altered or changed. [Oak Ridge National Lab, US "Gene Therapy" Oct. 2000]  http://www.ornl.gov/hgmis/medicine/genetherapy.html

The term 'gene therapy' encompasses at least four types of application of genetic engineering for the insertion of genes into humans. The scientific requirements and the ethical issues associated with each type are discussed. Somatic cell gene therapy is technically the simplest and ethically the least controversial. The first clinical trials will probably be undertaken within the next year [1986]. Germ line gene therapy will require major advances in our present knowledge and it raises ethical issues that are now being debated. In order to provide guidelines for determining when germ line gene therapy would be ethical, the author presents three criteria which should be satisfied prior to the time that a clinical protocol is attempted in humans. Enhancement genetic engineering presents significant, and troubling, ethical concerns. Except where this type of therapy can be justified on the grounds of preventive medicine, enhancement engineering should not be performed. The fourth type, eugenic genetic engineering, is impossible at present and will probably remain so for the foreseeable future, despite the widespread media attention it has received. W. French Anderson "Human gene therapy: scientific and ethical considerations" J Med Philosophy 10 (3): 275- 291, Aug. 1985 

Google = about 501,000 May 8, 2003; about 1,530,000 June 10, 2004; about 3,790,000 Nov 10, 2006, about 4,170,000 Jan 3, 2008

Cellular & gene therapy, FDA, US http://www.fda.gov/cber/gene.htm FDA has not yet approved any human gene therapy product for sale. However, the amount of gene-r elated research and development occurring in the United States continues to grow at a fast rate and FDA is actively involved in overseeing this activity. 2004

Related terms: human gene transfer, genetic enhancement; DNA glossary: recombinant DNA  Molecular diagnostics & genetic testing: especially preimplantation diagnosis

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"

genetic discrimination, genetic enhancement: Genetic & Genomic testing  

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

genomic drugs:  More than 100,000 people die each year from adverse responses to medications that are beneficial to others. Another 2.2 million experience serious reactions, while others fail to respond at all. ...  Genomic data and technologies also are expected to make drug development faster, cheaper, and more effective. Most drugs today are based on about 500 molecular targets; genomic knowledge of the genes involved in diseases, disease pathways, and drug- response sites will lead to the discovery of thousands of new targets. New drugs, aimed at specific sites in the body and at particular biochemical events leading to disease, probably will cause fewer side effects than many current medicines. Ideally, the new genomic drugs could be given earlier in the disease process. As knowledge becomes available to select patients most likely to benefit from a potential drug, pharmacogenomics will speed the design of clinical trials to bring the drugs to market sooner.  [Medicine and the New Genetics: Genomic and its impact on Medicine and Society, A 2001 primer, Oak Ridge National Lab, US] http://www.ornl.gov/hgmis/publicat/primer2001/6.html

Google = about 252 June 10, 2004; about 1,120 Nov. 10, 2006

Narrower terms: Gleevec, Herceptin

genomic epidemiology: An emerging discipline involving population studies and microarray/ expression studies. 

Related terms: environmental factors, public health; molecular epidemiology, human genome epidemiology, phenotypic prevention

genomic profiling: Expression genes & proteins

genomic testing, "good genes, bad genes": Genetic & Genomic testing

germline gene therapy: See under gene therapy

GIS Geographic Information Systems and: GIS link data and geography digitally for the purpose of making maps. This technology often provides a useful way to reveal spatial and temporal relationships among data.  Researchers, public health professionals, policy makers, and others use GIS to better understand geographic relationships that affect health outcomes, public health risks, disease transmission, access to health care, and other public health concerns.  GIS and Public Health, National Center for Health Statistics, 2007 http://www.cdc.gov/nchs/gis.htm   

global health inequities: An open licensing approach:  Amy Kapczynski, Samantha Chaifetz, Zachary Katz, and Yochai Benkler, San Francisco, CA  http://www.benkler.org/EALFinal.html 

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 . http://crchd.cancer.gov/definitions/defined.html 

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 genomics cancer health disparities

high-dimensional brain mapping: Maps & Mapping glossary

human gene transfer: The process of transferring genetic material (DNA or RNA) into a person.  At present, human gene transfer is experimental and is being studied to see whether it could treat certain health problems by compensating for defective genes, producing a potentially therapeutic substance, or triggering the immune system to fight disease. Human gene transfer may help improve genetic disorders, particularly those conditions that result from inborn errors in a single gene (for example, sickle cell anemia, hemophilia, and cystic fibrosis).  It may also hold promise for diseases with more complex origins, like cancer and heart disease.  Gene transfer is also being studied as a possible treatment for certain infectious diseases, such as AIDS. This type of experimentation is sometimes called “gene therapy” research. Office of Biotechnology Activities, NIH, FAQ Recombinant DNA and Gene Transfer, question 4, 2004 http://www4.od.nih.gov/oba/RAC/RAC_FAQs.htm#Q.%20What%20is%20human%2...

Google = about 3,650 June 10, 2004

Related term: gene therapy

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]  http://www.cdc.gov/genetics/hugenet/rationale.htm

integration- diagnostics & therapeutics: Business of biopharmaceuticals glossary

lipid lowering drugs:  SWOT analysis Insight Pharma Reports, Metabolic Syndrome, Pipeline Analysis and US Market Forecast , 2005 

lipoproteomics: Karlsson H, Leanderson P, Tagesson C, Lindahl M, Lipoproteomics I: mapping of proteins in low-density lipoprotein using two- dimensional gel electrophoresis and mass spectrometry Proteomics. 5(2): 551-65, 2005 Feb

Related term: cardiogenomics

lupus: See Drug discovery and development glossary Inflammatory diseases 

Medbiquitous Consortium: Technology standards based on XML and webservices.  http://www.medbiq.org/index.html 

medical errors - reducing: Background Brief: Reducing Medical Errors, Kaiser Permanente, 2006 http://www.kaiseredu.org/topics_im.asp?id=137&parentID=70&imID=1 

medical genetics, medical genomics: Molecular diagnostics, genetic & genomic testing glossary

medical informatics: An emerging discipline that has been defined as the study, invention, and implementation of structures and algorithms to improve communication, understanding and management of medical information. The end objective of biomedical informatics is the coalescing of data, knowledge, and the tools necessary to apply that data and knowledge in the decision- making process, at the time and place that a decision needs to be made. The focus on the structures and algorithms necessary to manipulate the information separates Biomedical Informatics from other medical disciplines where information content is the focus. [Medical Informatics FAQ, 1999] http://www.faqs.org/faqs/medical-informatics-faq/

Google = about  183,000 Mar. 10, 2003; about 453,000 June 10, 2004

Related terms: biomedical informatics

medical practice - impact of genomics on: See clinical genomics: Drug approvals and clinical trials

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? http://www.ama-assn.org/ama/pub/category/3668.html#2

Google = about 66 Sept. 4, 2003; about 115 June 20, 2004

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.  [2DWG Image Meta- Database, Searching by Molecular Anatomy, NCI, US}    http://www-lecb.ncifcrf.gov/2dwgDB/2dwgMolecAnatomy.html

Google = about 4,570 June 10, 2004; about 158,000 Aug 9, 2007

molecular diagnostics: Molecular diagnostics, genetic & genomic testing glossary

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:  Starting with the completion of the Human Genome Project in 2003, and followed by studies in genomics, proteomics, and systems biology, scientists have begun to identify and classify disease at the fundamental level of the molecule – hence, the term "molecular medicine."  The potential of molecular or "personalized" medicine is deep and far-reaching. It may enable:  Early identification of disease- causing genes, permitting early interventions that could delay or prevent altogether the onset of clinical symptoms, Sub- grouping of diseases by genetic biomarkers to reveal the likely progression of those diseases and the expected responses to certain types of therapy, Real-time monitoring of patient response to certain therapies, avoiding futile treatments and unnecessary side effects to achieve the optimum outcome for patients. caBig^TM and Molecular Medicine, NCI, NIH http://cabig.cancer.gov/molecular/overview.asp  

Molecular Medicine Tri-Conference  February 3-5, 2010 • San Francisco, CA  Program | Register | Download Brochure

Related terms: scientific and technology ecosystem, team science Research glossary

The understanding of health and disease at the cellular and molecular level; the use of this information to design new approaches to promote health, and prevent, diagnose, cure and treat disease (these might be by non- invasive (non- molecular) means, such as changes in lifestyle or environment); examples include gene therapy, DNA- based testing, vaccine design, the study of disease processes at the molecular level (including the epidemiological study of large numbers of people).  ...  a relatively new concept as a multidisciplinary subject; a rapidly moving, relatively well-funded field of research; of central relevance to medical training; of great interest to the general public; fraught with complicated and confusing nomenclature and jargon...  a multidisciplinary field, but with many common techniques. "Our definition of molecular medicine" Expert Reviews in Molecular Medicine, Cambridge Univ. Press, Aims http://www-ermm.cbcu.cam.ac.uk/aimsof.htm

The employment of molecular biology and gene technology has enhanced the understanding of human diseases creating a new branch of research - that of "molecular medicine". The Journal of Molecular Medicine (JMM) publishes original papers, rapid communications, review articles and correspondence of the highest quality pertinent to all aspects of human biology and pathophysiology. The application of research involving gene technology, gene therapy, molecular structural analysis, genetic epidemiology and molecular and clinical pharmacology has made unprecedented progress and precision possible in the understanding, prevention, diagnosis and treatment of human diseases. These areas of molecular medicine, therefore, will be given particular attention by the editorial board. Papers describing in vitro or animal studies will be accepted, if they are relevant to normal or pathological human biology. Journal of Molecular Medicine, Springer, Aims and Scope http://link.springer.de/link/service/journals/00109/aims.htm

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 http://www.imm.ox.ac.uk/pages/about.htm

Google = about 402,000 June 10, 2004; about 1,710,000 Nov 10, 2006; about 974,000 Nov 13, 2009

Related terms: clinical proteomics, translational medicine; 
Genetic manipulation & disruption glossary systems biology

molecular pathology: Molecular diagnostics, genetic & genomic testing glossary

molecular taxonomy: Cancer genomics & diagnostics

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 http://www.biomedcentral.com/curropinmolther/ 

Google = about 8,780 June 10, 2004, about 88,900 Sept. 28, 2005; about 189.000 Nov 14, 2006

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. 

Google = about 613 Nov 10, 2006

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. 

Google = about 328,000 Nov 10, 2006

multiple sclerosis: See Drug discovery and development glossary Inflammatory diseases

nanomedicine: Nanoscience & miniaturization

Related terms: molecular diagnostics, prion

nanotechnology in the clinical laboratory setting:  The technology that employs micro fabricated devices for biomedical applications i.e. using sample and reagents in minute amounts e.g. nanoliter range, has seen an almost exponential growth. The potential of this technology for analytical purposes in biomedicine has been demonstrated for immunoassays, the polymerase chain reaction (PCR), cell isolation, electrophoresis and mass spectrometry. This technology will also offer large scale screening possibilities for a wide range of analytes and be applicable outside the traditional laboratory through the introduction of robust and simplified instruments. The recommendations will address issues related to traceability of calibrators, transferability of results and other data performance specifications and quality assessment. IUPAC, Recommendations for the use of nanotechnology in clinical laboratories, project number: 2000-014-1-700, 2001 http://www.iupac.org/projects/2000/2000-014-1-700.html

neglected diseases: See sleeper diseases  Drug discovery & development glossary

neuroceuticals:  http://economistsview.typepad.com/economistsview/2006/02/neuroceuticals.html 

Related terms: cogniceuticals, neuropharmaceuticals

NeuroCommons: The NeuroCommons project is creating an Open Source knowledge management platform for biological research. The first phase, a pilot project to organize and structure knowledge by applying text mining and natural language processing to open biomedical abstracts, was released to alpha testers in February 2007. The second phase is the development of a data analysis software system. The software will be released by Science Commons under the BSD Open Source License. These two elements together represent a viable open source platform based on open content and open Web standards. Neurocommons, ScienceCommons http://sciencecommons.org/projects/data/ 

neurogenome: The total number of genes functionally expressed in the human nervous system. [Roger Rosenberg "Genomic Neurology: A New Beginning" Archives of Neurology 58: 1739- 1741, Nov. 2001] http://archneur.ama-assn.org/issues/v58n11/fpdf/ned10002.pdf

neurogenomics:  CNS disorders affect a vast patient population and represent a huge area of unmet therapeutic need. In the United States alone, Alzheimer’s disease (AD), Parkinson’s disease (PD), and amyotrophic lateral sclerosis (ALS) afflict more than 6.5 million people. Drug discovery efforts for the most prevalent CNS diseases have met with varying success; it is estimated that billions of dollars are spent every year on prescription drug sales, however, many current therapies merely treat the symptoms but do not provide cures. Insight Pharma Reports,  Neurogenomics and Neurotherapeutic Strategies: New Directions in Platforms, Targets, and Therapeutic Approaches, report  2005 http://www.insightpharmareports.com/reports/2005/45_Neurogenomics/overview.asp 

The NIH Neurogenomics Project is dedicated to furthering functional genomics research, by utilizing phenotype-driven, or forward genetics, techniques to identify genes. The overall objective has been to use ENU-mutagenized C57BL/6J mice to identify neurobehavioral mutations in five domains. The project uses a three-generation breeding scheme to produce homozygous mutants to recover both recessive and dominant mutations. Phenotypic screens focus on five primary domains: neuroendocrine and behavioral responses to stress, learning and memory, psychostimulant response, vision, and circadian rhythm. NIH Neurogenomics Project at Northwestern Univ, US http://genomics.northwestern.edu/neuro/about.cfm

Google = about 26,700 Nov. 5, 2005; about 80,600 Nov 10, 2006

NIH Neurogenomics Project at Northwestern Univ. US http://genomics.northwestern.edu/neuro/ 

neuroimmune network, neuroimmunoendocrinology, neuroimmunomodulation:   Horst Ibelgaufts' COPE: Cytokines Online Pathfinder Encyclopaedia http://www.copewithcytokines.de/cope.cgi?006171

neuroinformatics:  Neuroinformatics publishes original articles and reviews in the new field of neuroinformatics. The emphasis is on data structure and software tools related to analysis, modeling, integration, and sharing, in all areas of neuroscience research. In particular, we invite contributions on: (1) Theory and methodology, including discussions on ontologies, modeling approaches, database design and meta-analyses; (2) Descriptions of developed databases and software tools, and of the methods for their distribution; (3) Relevant experimental results, such as reports accompanied by the release of massive data sets; (4) Computational simulations of models integrating and organizing complex data; and (5) Neuroengineering approaches, including hardware, robotics, and information theory studies. The journal also publishes independent "tests and evaluations" of available neuroscience databases and software tools and fosters a commitment to the principles of tool and data sharing.  Aims and Scope, Neuroinformatics, Humana Press

Understanding brain function requires the integration of information from the level of the gene to the level of behavior. At each of these many and diverse levels there has been an explosion of information, with a concomitant specialization of scientists. The price of this progress and specialization is that it is becoming virtually impossible for any individual researcher to maintain an integrated view of the brain and to relate his or her narrow findings to this whole cloth. Although the amount of information to be integrated far exceeds human limitations, solutions to this problem are available from the advanced technologies of computer and information sciences. [Neuroinformatics: The Human Brain Project, National Institute of Mental Health, NIH, US, 2002] http://www.nimh.nih.gov/neuroinformatics/index.cfm

Neuroinformatics Site,  http://www.neuroinf.org/
NIH Blueprint for Neuroscience Research http://neuroscienceblueprint.nih.gov/neuroscience_resources/neuroinformatics.htm 

neuropharmaceuticals: Drugs targeting the central nervous systems.  The blood brain barrier poses a formidable drug delivery challenge.  CHA Cambridge Healthtech Advisors,  Neurogenomics and Neurotherapeutic Strategies: New Directions in Platforms, Targets, and Therapeutic Approaches report, 2005

Google = about 530 Dec. 6, 2004; about 11,000 Nov 10, 2006

Related terms: cogniceuticals, neuroceuticals, neuroinformatics

neuroproteomics: Proteomics categories

neurotherapeutics: Current therapies for neurodegenerative and psychiatric diseases leave much to be desired. Alzheimer’s and Parkinson’s diseases are an increasing burden on the health care systems of the developed countries as the proportion of their elderly population rises. As for psychiatric disorders, their social and economic impact can be measured by the fact that antipsychotics and antidepressants account for nearly a quarter of total sales for the world’s top 10 best-selling drugs. Potential Breakthroughs in Neurotherapeutics: Alzheimer’s Disease, Parkinson’s Disease, Depression, Bipolar Disorder, and Schizophrenia report, 2006 

Related term: neurogenomics

nonlinear: Informatics overview

normal: 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 http://www.nap.edu/books/NI000479/html/R1.html

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:  Genomics categories

oncogenomics: Cancer genomics  & diagnostics glossary

pathogenomics: Our project utilizes a combination of informatics, evolutionary biology, microbiology and eukaryotic genetics to identify pathogen genes which are more similar to host genes than expected, and likely to interact with, or mimic, their host’s gene functions. In addition, potential pathogenicity islands in genomes are being identified. A database of these genes is being built, which will be updated in an automated fashion, based on the increasing number of pathogen genomes being sequenced. Candidate functions identified by our informatics approach will be tested in the laboratory to investigate their role in pathogen infection and host interaction. Tests will include studies of both the pathogen gene and any homologous C. elegans gene, as C. elegans will be used as a model host organism for some pathogens. Public databases of all analyses used and all genes identified using our approach will be made available on this website. [Pathogenomics, British Columbia, Canada, 2002]  http://www.pathogenomics.bc.ca/

The development of genomic technologies and bioinformatics to provide novel opportunities for studying life- threatening human pathogens with great potential of enhancing human health. Summary of the expert workshop on the European Research Agenda (WP 3), 2005  http://www.pathogenomics-era.net/datapool/page/90/WP3-Helsinki-sept-05.ppt.

Google = about 30,100 Nov. 5, 2005; about 53,500 Nov 10, 2006

M. Nose [Origin of the diversity and similarity of pathological manifestations of collagen disease: lessons from murine models in an aspect of pathogenomics Article in Japanese] Ryumachi 40(5): 833- 848 Oct. 2000  

pathology informatics: Involves collecting, examining, reporting, and storing large complex sets of data derived from tests performed in clinical laboratories, anatomic pathology laboratories, or research laboratories in order to improve patient care and enhance our understanding of disease- related processes. Pathology Informaticians seek to: 1. continuously improve existing laboratory information technology and enhance the value of existing laboratory test data, and 2. develop computational algorithms and models aimed at deriving clinical value from new data sources.  [Association for Pathology Informatics, Mission Statement, 2001] http://www.pathologyinformatics.org/mission.htm

patient engagement: Surgeon General C Everett Koop once said “Drugs don’t work in patients who don’t take them.” I’ll offer a corollary of my own: Patients who aren’t engaged don’t comply with therapies or report complications.  Enabling Patient Engagement and Healthcare Innovation, FDA Testimony Healthcare Innovation DDMAC Public Hearings on Internet & Social Media #FDASM Zen Chu, 2009 http://www.slideshare.net/MedicalVentures/zen-chu-healthcare-innovation-fda-testimony-ddmac-public-hearings-on-internet-social-media 

personal genomics:  Continuing advances in genetic research combined with the Internet’s role in empowering individual’s personal health education are poised to revolutionize the healthcare industry. Kits utilizing DNA testing are obvious examples of how genetic technology can be applied to improve patient care. Proponents argue that putting personalized medical information directly into the hands of individuals allow for informed choices about their health. Skeptics point out that although genetic variation is linked to complex disease little is known about the interplay of genetic and non-genetic factors such as diet, exercise, smoking and pollution that also affect a person's risk for disease. Progression of Personal Medicine: Kit Development for Consumer Genomics: Beyond Genome, June 10-11 2008, San Francisco CA   

See also drug safety  pharmacogenomics  

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] http://www.cdc.gov/genetics/info/books/21stcentury.htm    

Related terms environmental factors, molecular epidemiology, public health. 

physiogenomics, physiome, physiomics: Omes & omics glossary

pleiotropy tests: See under regulatory therapies

point of care diagnostics: Molecular diagnostics, genetic & genomic testing glossary

predictive biomedicine: Predictive Biomedicine (PB) will cover the development and use of informatics and computational tools to manage, present, and interpret experimental data as well as those used in modeling and bio-simulation. Companies and thought-leaders; products and technologies; relevant research programs and their results will be covered. From data management challenges to systems biology initiatives, PB will report on industry’s efforts to reduce dependence on trial and error and adopt more data-driven predictive methods to drive drug discovery and development and even health care delivery. John Russell, editor Predictive Biomedicine eNewsletter, Sept 2008 http://www.bio-itworld.com/issues/2008/sept/russell-transcript-predictive-biomedicine.html?terms=GNS%3A+Building+a+SNPs-to-Outcomes+Engine 

predictive genomics: Wayne D. Hall^1,+, Katherine I. Morley^1,2 and Jayne C. Lucke^1, The prediction of disease risk in genomic medicine: Scientific prospects and implications for public policy and ethics EMBO reports vol. 5 | Suppl 1 | pp S22-S26 | 2004 DOI: 10.1038/sj.embor.7400224  

See also Pharmacogenomics  predictive pharmacogenomics 

predisposition, genetic: Genetic & genomic testing

prion:  PROteinaceous INfectious agent. The prion theory suggests that the infective agent of CJD (and the other TSEs) is only composed of a protein and does not contain nucleic acid which would be necessary if the agent was a conventional virus.  [UK Creutzfeldt- Jakob Disease Surveillance Unit, Scientific & Medical Terms, Univ. of Edinburgh, UK, 1997 ] http://www.cjd.ed.ac.uk/glos.htm

Small proteinaceous infectious particles which resist inactivation by procedures that modify nucleic acids and contain an abnormal isoform of a cellular protein which is a major and necessary component. The abnormal (scrapie) isoform is PrPSc (PRPSC PROTEINS) and the cellular isoform PrPC (PRPC PROTEINS). The primary amino acid sequence of the two isoforms is identical. Human diseases caused by prions include CREUTZFELDT- JAKOB SYNDROME and GERSTMANN- STRAUSSLER SYNDROME.  [MeSH, 1986]

Related terms: BSE, CJD, National Prion Disease Pathology Surveillance Center NPDPSC, PrP, TSE, vCJF

prognosis: The probable outcome or course of a disease; the chance of  recovery. [ORD]

Not a major emphasis in clinical medicine today. Nicholas Christakis' Death Foretold is an eloquent book about the delicate balance between medical reality and optimism, and how seldom this is discussed in either classrooms or hospital rooms today.

protein therapeutics: See Drug Discovery & Development

proteomic diagnostics tools: G.O.T. Summit Getting Optimized Targets  May 19- 21, 2008 Boston MA  Proteomics glossary

PrP protein:  The prion protein. This is a normally occurring protein found on the surface of particular cell types - PrPC. The abnormal form PrPCJD (or PrPScrapie) accumulates in the disease brain and is thought to be the main (or only) constitutent of prions.  [UK Creutzfeldt- Jakob Disease Surveillance Unit, Scientific & Medical Terms, Univ. of Edinburgh, UK, 1997 ] http://www.cjd.ed.ac.uk/glos.htm

PrPC proteins: Normal cellular isoform of prion proteins (PRIONS) encoded by a chromosomal gene and found in normal and scrapie- infected brain tissue, and other normal tissue. PrPC are protease- sensitive proteins whose function is unknown. Post- translational modification of PrPC into PrPSC leads to infectivity. [MeSH, 1995] 

PrPSc proteins: Abnormal isoform of prion proteins (PRIONS) resulting from a posttranslational modification of the cellular prion protein (PRPC PROTEINS). PrPSc are disease-specific proteins seen in certain human and animal neurodegenerative diseases (PRION DISEASES). MeSH, 1995

psoriasis: See Drug discovery and development glossary Inflammatory diseases

psychogenomics: Used here to describe the process of applying the powerful tools of genomics and proteomics to achieve a better understanding of the biological substrates of normal behavior and of diseases of the brain that manifest themselves as behavioral abnormalities. Applying psychogenomics to the study of drug addiction will lead to the identification of genes and their protein products that control the reward pathways of the brain and their adaptations to drugs of abuse, as well as variations in these genes that confer genetic risk for addiction and related disorders. EJ Nestler, Psychogenomics: opportunities for understanding addiction, J Neurosci. 21(21): 8324- 8327, Nov 1, 2001 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11606619&query_hl=38

Google = about 167 Nov 5, 2005, about 422 Nov 10, 2006

psychoneuroimmunology: A new field emerging in medicine. It brings together knowledge from multiple fields of study in endocrinology, immunology, psychology, neurology and other fields. The emerging field of psychoneuroimmunology holds great promise in many ways. It has the potential to integrate the systems of the body into a unified view of how the body works and interacts with itself and its environment. PNI is the study of how all these mechanisms and bodily functions interact to produce states of health and disease. There is, however, no formal consensus on the actual definition of what constitutes PNI or its research (Petellier 1999). http://raptor.slc.edu/~synapse/papers/pni.html

Related terms: neuroimmune network, neuroimmunoendocrinology, neuroimmunomodulation

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  http://www.phgfoundation.org/pages/definition.htm 

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 http://www.cdc.gov/genomics/about/announcement.htm  

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. 

Genomics and World Health, World Health Organization, 2002  http://www.who.int/gb/ebwha/pdf_files/EB111/eeb11112.pdf  
Public Health and Health Care Administration Glossary of Terms 1999, http://depts.washington.edu/hsic/resource/glossary.html
Genetics and Public Health in the 21st century, CDC Centers for Disease Control and Prevention, US http://www.cdc.gov/genomics/info/books/21stcentury.htm  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 http://www.cdc.gov/genomics/training/competencies/comps.htm    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  http://www.phgfoundation.org/   News and information about advances in genetics and their impact on public health and the prevention of disease.

Related terms:  morbidity (compressing), mortality (reducing), phenotypic prevention.  

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

public health informatics: The systematic application of information and computer sciences to public health practice, research, and learning. It is the discipline that integrates public health with information technology. The development of this field and dissemination of informatics knowledge and expertise to public health professionals is the key to unlocking the potential of information systems to improve the health of the nation. www.nlm.nih.gov/pubs/cbm/phi2001.html  MeSH 2003

Public health informatics, and its corollary, population informatics, is concerned with informatics focused on groups rather than individuals. This parallels the field of public health. Public health is potentially extremely broad and might even reflect an interest in information technology with regard to ecology, architecture, climate, agriculture, and such. AMIA will focus on those aspects of public health that are considered to be in the purview of the Centers for Disease Control including security with respect to biosurveillance and bioterrorism. At this time it does not concern itself with informatics relating to the broadest reaches of public health. Strategic Plan, American Medical Informatics Association, 2007 http://www.amia.org/inside/stratplan/

regenerative medicine: Biomaterials & bioengineering

regulatory therapies: Will be devised by reference to regulome maps, and pharmaceutical companies will be busy identifying molecules whose specific action will be limited to a particular regulatory target.

Software- directed pleiotropy tests could in the future predict specific side effects that an intervention on any individual component of the regulatory system is likely to have. Regulomics after Genomics: A Challenge for the 21st Century, Emile Zuckerk, Institute of Molecular Medical Sciences, International Union of Biological Sciences http://www.iubs.org/test/bioint/41/16.htm 

Related terms regulome maps, regulomics, controller gene diseases; Gene definitions: pleiotropy 

research diagnostics: Molecular diagnostics, genetic & genomic testing

rheumatoid arthritis See Drug discovery and development glossary Inflammatory diseases

side effect: Drug safety & pharmacovigilance

syndromics, syndromic systems: Systems of information for the detected of occurrences of syndromes. Edilson Damasio, Systems of information and surveillance of occurrences in bioterrorism, 9^th World Congress on Health Information and Libraries, Brazil, Sept. 20-23, 2005 http://www.icml9.org/program/track3/activity.php?lang=en&id=20

Google = about 76, Nov 5, 2005, about 92 Oct. 25, 2006

theranostics: See pharmacodiagnostics

therapeutic engineering: The combined application of the principles of mathematics, engineering, physics, chemistry, and biology to better understand human pharmacology, physiology, toxicology, and pathophysiology with a vision for development of better, more individualized, outcomes- focused, therapeutic treatments. C. Anthony Hunt Lab, Biosystems at Univ. of California, San Francisco, http://biosystems.ucsf.edu/ 

therapeutics: See disease interventions

theranostics:  Molecular diagnostics, genetic & genomic testing

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

top-down: A systems approach, which looks at the big picture and complexity. Genomics is essentially a top- down approach, the opposite of a bottom- up approach. Our ways of thinking have been so profoundly influenced by bottom- up, reductionist approaches that we are having to learn to think in very different ways to begin to fully exploit genomic data. 

Narrower term: Nanoscience & miniaturization glossary nanofabrication- top- down

transimmunization: An immunotherapy developed as a treatment for immunogenic cancers and T cell mediated immunologic disorders. It involves the efficient transfer of disease- associated antigens to dendritic antigen presenting cells which initiate immunization against these antigens. Transimmune  http://www.transimmune.net/    

translational genomics: Genomics categories

Google = about 6,101 Nov. 3, 2004; about 214,000 Nov 10, 2006

translational medicine:  Translational Medicine February 3-5, 2010 • San Francisco, CA Program | Register | Download Brochure 

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 http://www.w3.org/2008/05/HCLSIGCharter#translat 

Translational research goes from bench to bedside, where theories emerging from preclinical experimentation are tested on disease- affected human subjects, and from bedside to bench, where information obtained from preliminary human experimentation can be used to refine our understanding of the biological principles underpinning the heterogeneity of human disease and polymorphism(s). The former direction has received much attention, usually through exploratory clinical studies referred to as "phase 1" trials. The latter, however, has been largely ignored. Scope Note, Journal of Translational Medicine http://www.translational-medicine.com/info/about/

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

Google = about 72,900 Nov. 3, 2004; about 692,000 Nov 10, 2006; about 1,380,000 Sept 17, 2007; about 2,300,000 Nov 13, 2009

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 http://www.jr2.ox.ac.uk/bandolier/glossary.html 

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 of biopharmaceuticals risk management

uncertainty factor: Mathematical adjustments for reasons of safety when knowledge is incomplete. For example, factors used in the calculation of doses that are not harmful (adverse) to people. These factors are applied to the lowest-observed-adverse-effect-level (LOAEL) or the no-observed-adverse-effect-level (NOAEL) to derive a minimal risk level (MRL). Uncertainty factors are used to account for variations in people's sensitivity, for differences between animals and humans, and for differences between a LOAEL and a NOAEL. Scientists use uncertainty factors when they have some, but not all, the information from animal or human studies to decide whether an exposure will cause harm to people [also sometimes called a safety factor]. ATSDR Glossary, Agency for Toxic Substances & Disease Registry, http://www.atsdr.cdc.gov/glossary.html 2009

vaccines: Therapeutic areas

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. http://info.med.yale.edu/womenshealth//about/index.html 

women's health - statistical modeling: Gender differences in prevalence, risk and course of a variety of health outcomes depend upon a complex interplay of factors, including biological, social and psychological factors. The multivariate nature of our research hypotheses poses significant problems for the design and interpretation of studies in women's health. The statistical modeling core is committed to the application and development of multivariate techniques that are vital to the testing of these hypotheses. Women's Health Research at Yale, Statistical Modeling, http://info.med.yale.edu/womenshealth//research/statistic.html 

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  http://www3.who.int/whosis/genomics/genomics_report.cfm#

Bibliography
Cochrane Collaboration, Glossary of Terms in the Cochran Collaboration, Version 4.2.4, http://www.cochrane.org/resources/glossary.htm  500 + definitions. 
Evidence Based Medicine Glossary, Mt. Sinai Hospital, 30+ terms, US, 2000   http://www.cebm.utoronto.ca/glossary/index.htm#top
Health Care Delivery & Financing Terms, Academy for Health Services Research and Health Policy, US, 2003, about 300 terms. http://www.academyhealth.org/publications/glossary.htm
Insight Pharma Reports, Clinical Genomics: The Impact of Genomics on Clinical Trials and Medical Practice report, 2004 
Insight Pharma Reports, Metabolic Syndrome, Pipeline Analysis and US Market Forecast report, 2005 http://www.insightpharmareports.com/reports/2005/44_Metabolic_Syndrome/overview.asp 
IUPAC Glossary of bioanalytical nomenclature - Part 1: General terminology, body fluids, enzymology, immunology Recommendations 1994 http://www.iupac.org/publications/pac/1994/pdf/6612x2587.pdf 
Nature Clinical Practice Glossary, http://www.nature.com/glossary/clinicalpractice/alpha.do?initial=A  
Neuroscience, Neurology and Psychiatry Gateway, BioMedCentral http://www.biomedcentral.com/gateways/neuropsych/ 
NIH Human Subjects Research Definitions,  2004 http://grants.nih.gov/grants/funding/PHS398/instructions2/p2_human_subjects_definitions.htm 
Public Health and HealthCare Administration Glossary of Terms, Health Services Library and Information Center, Univ. of Washington, US1999, 300+ terms http://depts.washington.edu/hsic/resource/glossary.html

Patient and disease related resources: Patient resources, 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.