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You are here Biopharmaceutical/ Genomic Glossary homepage/Search > Applications > Clinical genomics Molecular Medicine and Molecular Diagnostics Molecular
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applications map, Site Map 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. antibody diagnostics: Cancer genomics glossary antiviral therapeutics: Drug Discovery & Development Glossary asthma: Drug discovery and development glossary Inflammatory diseases autism: No single parameter, or combination of parameters, has been unambiguously corroborated as a cause of human autistic disorders. No medications have been proven to be efficacious in the treatment of the core social or communication impairment seen in autism. Some of its other symptoms or frequent comorbidities (aggression, hyperactivity, and seizures) can be managed with currently available drugs. If passed into law, the "Combating Autism Act of 2005" could massively expand the number of autism diagnoses within a few years, creating skyrocketing demand for prescription medications. Insight Pharma Reports, Autism: A Developmental Disorder That Is Massively on the Rise. Unmet Needs, http://www.insightpharmareports.com/reports/2006/62_Sleeper_Diseases/overview.asp#a Part of Insight Pharma Reports, Sleeper diseases: Forecast and Assessment of Neglected Disease Market Opportunity, 2006 http://www.insightpharmareports.com/reports/2006/62_Sleeper_Diseases/overview.asp autoimmune diseases -- novel biologics: Recent approvals of biologics by the FDA turned them into very attractive therapeutics for the pharmaceutical industry. Immunomodulators are one of the most promising new therapies for autoimmune diseases such as MS, Lupus, rheumatoid arthritis and IBD and Crohn’s disease. Novel biologics for autoimmune diseases, Aug 22-24, 2007, Cambridge MA bacterial bioinformatics: Bioinformatics glossary Google = about 30 May 8, 2003; about 132 Nov 10, 2006 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 blood safety: See BSE, TSE blood substitutes: Human blood, plasma and tissue contain many proteins, the extraction and purification of which are of great medical and economic importance. Transmission of infectious diseases via blood transfusion, tissue implantation and the use of processed blood plasma and components have placed a high priority on the development of new strategies for safeguarding the health of millions of patients who receive blood and tissue-derived products every year. The screening of blood for the detection of infectious agents is continuing to advance but is complicated by the presence of new and emerging pathogens. In addition, cost- effectiveness and the threat of emerging and/or crossover infective agents must also be considered. BSE: Bovine spongiform encephalopathy (or mad cow disease). [UK Creutzfeldt- Jakob Disease Surveillance Unit, Scientific & Medical Terms, Univ. of Edinburgh, UK, 1997 ] http://www.cjd.ed.ac.uk/glos.htm See also TSE CJD Creutzfeldt- Jakob disease: The most common human SE [spongiform encephalopathy] which is characterised by a rapidly progressive dementia. Identified in the 1920s through the work of Creutzfeldt and Jakob. UK Creutzfeldt- Jakob Disease Surveillance Unit, Scientific & Medical Terms, Univ. of Edinburgh, UK, 1997 http://www.cjd.ed.ac.uk/glos.htm Related terms: BSE, blood & blood substitutes, TSE
Transmissible Spongiform Encephalopathy 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 cardiogenomics: CardioGenomics is one of eleven Programs for Genomic Applications (PGAs) funded by the National Heart, Lung and Blood Institute (NHLBI) of the NIH. The PGA initiative was funded in September of 2000 with the mission of advancing functional genomic research related to heart, lung, blood, and sleep health and disorders. A key feature of the PGA initiative is that all data, information, educational materials and reagents are made publicly available, and the scientific community is given access to these products and made aware of the each PGA's activities via the web. The primary goal of the CardioGenomics PGA is to begin to link genes to structure, function, dysfunction and structural abnormalities of the cardiovascular system caused by clinically relevant genetic and environmental stimuli. The principal biological theme to be pursued is how the transcriptional network of the cardiovascular system responds to genetic and environmental stresses to maintain normal function and structure, and how this network is altered in disease. Cardiogenomics, Harvard Medical School, http://cardiogenomics.med.harvard.edu/pga-overview Google = about 3,800 May 8, 2003, about 49,000 Aug. 9, 2005 Cardiome Project: The Cardiome is the description, in quantitative, testable form, of the functioning of the normal heart and its responses to intervention. The Cardiome Project is a large- scale multidisciplinary, multi- center effort to develop computational models of the heart that integrate electrophysiological, hemodynamic, metabolic, and mechanical functions and that span scales of biological organization from gene to organ system. The principal investigator and collaborators at NPACI partner institutions and other centers are working on the major aspects of this project, and undergraduate students from many disciplines are actively involved in these efforts, which are sponsored by several sources including two resources based at SDSC [San Diego Supercomputer Center] the National Biomedical Computation Resource and the BioNOME Resource. http://www.krellinst.org/neot/reu/awards98/reu98021.html Related term: lipoproteomics cardioproteomics: Proteomics categories Google = about 6, May 8, 2003; about 13 June 10, 2004 cardiovascular diagnostics: Cardiovascular diseases continue to be an enormous medical and cost burden on the health care system. As the rapidly aging population drives an increase in the incidence and prevalence of heart disease, the need for early detection and intervention will escalate dramatically. Insight Pharma Reports, Cardiovascular Diagnostics: Key Developments in Technologies and Markets, 2005 http://www.insightpharmareports.com/reports/2005/49_CardioDx/overview.asp cell therapeutics, cellular therapy: Cell therapy can take several forms and serve many purposes including altering normal cell response, stimulating native signaling cascades, performing missing metabolic functions, restoring lost tissue, or changing the normal course of repair into true regeneration. Designing and implementing a plan for commercialization takes many paths, each with their own set of biological, technical and regulatory considerations. Cell Therapies Aug 23, 2007, Boston MA As novel cellular therapies move from laboratory findings to clinical practice, medical researchers and regulators face new issues and uncertainties involving long-term safety and efficacy. Currently, there are no effective drug therapies for many acquired and congenital diseases. Recent discoveries in cellular therapy research present new opportunities for cellular products to be used in disease areas with critical, unmet medical needs. The Food and Drug Administration (FDA) regulates cellular therapies to ensure that they are safe and effective, and that persons enrolled in clinical trials using cellular products are protected from undue risk. Cellular Therapy: Potential treatment for Heart Disease, CBER, FDA, 2004 http://www.fda.gov/cber/genetherapy/celltherapyheart.htm Related terms: gene therapy, myoblasts, stem cells; Cancer genomics cancer vaccines 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 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 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 computer aided diagnosis CAD: A general term used for a variety of artificial intelligence techniques applied to medical images. CAD methods are being rapidly developed at several academic and industry sites, particularly for large- scale breast, lung, and colon cancer screening studies. X-ray imaging for breast, lung and colon cancer screening are good physical and clinical models for the development of CAD methods, related image database resources, and the development of common metrics and methods for evaluation. For large- scale screening applications CAD methods are an important for: (a) improving the sensitivity of cancer detection, (b) reducing observer variation in image interpretation, (c) increasing the efficiency of reading large image arrays, (d) improving efficiency of screening by identifying suspect lesions or identifying normal images, and (e) facilitating remote reading by experts (e.g., telemammography). Image processing tools are also being developed for temporal analysis of serial images, with the aim of detecting early subtle changes that might not be obvious to the reading physician. Temporal analysis requires additional consensus on the development of reference standards (electronic ground truth), software modules for registration of serial images and related image segmentation. In addition, CAD techniques can improve the specificity of cancer detection by assigning a quantitative estimate of the probability that a detected lesion is benign or malignant. Another promising application of CAD is predicting which cases are most suitable for a particular treatment option. NEW NCI INITIATIVES IN COMPUTER AIDED DIAGNOSIS, Laurence P. Clarke, National Cancer Institute, http://www3.cancer.gov/dip/spieppr.htm Google = about 72,800 May 8, 2003 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 cosmetic psychopharmacology: Peter Kramer, Listening to Prozac, Wikipedia http://en.wikipedia.org/wiki/Peter_D._Kramer Google = about 272 May 8, 2003; about 501 Apr. 28, 2004 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 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 diabetes therapies: Drug discovery & development glossary diagnomicsTM: Molecular diagnostic testing that give clinicians information about patients that can be used in making medical decisions. Glossary, Millennium Pharmaceuticals, Inc. http://www.millennium.com/glossary/popup.asp Google = about 107 May 8, 2003; about 609 Apr 6, 2007 diagnosis: Allen Roses, worldwide director of genetics for Glaxo Wellcome [now Glaxo SmithKline] notes that “precise diagnoses leading to universal specific treatments are, for many illnesses, myths... for many diseases there is no accurate, single diagnostic test” . [A.D. Roses “Pharmacogenetics and future drug development and delivery” Lancet 355 (9212):1358-61 Apr 15, 2000] Related terms: clinical genomics, diagnostics, disease intervention, diseases, prognosis diagnostics: For diagnostics, tests based on genes (mutations, SNPs), gene expression profiles and protein biomarkers are being added to the more standard diagnostics of clinical chemistry or immunoassays. CHI’s Drug Discovery and Development Map http://www.healthtech.com/drugdiscoverymap.asp Diagnostics
and Enabling Technologies, Insight Pharma Reports
series Related terms: biomarkers Digital Health Summit -- Global Connectivity and Technology to Drive a Strategic Vision of Integrated Healthcare Delivery Systems, October 9-10, 2006, Baltimore MD The healthcare environment will be profoundly changed by the convergence of technology, and ready access to updated patient information. The program will cover the use of combinatorial device technology to integrate healthcare systems, and the novel connectivity of global electronic medical record efforts. Clinical management of disease will be addressed through the use of handheld and point-of-care devices. The value of real time patient information to the clinical management team and the pharmaceutical researcher will be leveraged while addressing the ethical and legal implications. 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: InsightPharma 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, 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: adverse drug event ADE, adverse drug reaction ADR drug proteomics: Proteomics categories Google = about 29 May 8, 2003; about 112 Nov 10, 2006 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 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. Intellihealth: guide to diagnostic tests Patient resources Narrower terms: molecular diagnostics, molecular pathology, research diagnostics; Nanoscience & Miniaturization glossary DNA diagnostics - miniaturization emerging infectious diseases: Those whose incidence in humans has increased within the past two decades or threatens to increase in the near future. Emergence may be due to the spread of a new agent, to the recognition of an infection that has been present in the population but has gone undetected, or to the realization that an established disease has an infectious origin. Emergence may also be used to describe the reappearance (or "reemergence") of a known infection after a decline in incidence." , Emerging Infectious Diseases (EID)?: Microbial Threats to Health in the United States , Institute of Medicine Report, US, 1992 quoted at "What are EIDs?, ProMED, American Federation of Scientists, 2001.http://www.fas.org/promed/about/index.html See also Scope Note Emerging Infectious Diseases, CDC, US http://www.cdc.gov/ncidod/eid/about.htm Google = about 55,400 May 8, 2003; about 1,230,000 Nov 10, 2006 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 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 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 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 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 immunogenomics: Research in the Immunogenomics Laboratory is focused around the study of the organisation, function and evolution of vertebrate defense genes, particularly those encoded by the Major Histocompatibility Complex (MHC) and the Leukocyte Receptor Complex (LRC). Both complexes form integral parts of the immune system. The MHC is the most important genetic region in relation to infection and common disease such as autoimmunity. Driven by pathogen variability, immune genes have become the most polymorphic loci known, with some genes having over 500 alleles. The main function of these genes is to provide protection against pathogens and they achieve this through complex pathways for antigen processing and presentation. However, even subtle changes in these pathways can lead to genetic miscommunication and result in disease, particularly autoimmune disease. This genetic balancing act also presents a major challenge to transplant medicine where the aim is to minimise the rejection of transplants while not having to compromise the patient's immune system. Stephan Beck, Team 50 Immunogenomics Lab, Wellcome Trust Sanger Institute, UK http://www.sanger.ac.uk/Teams/Team50/ Google = about 211 May 8, 2003; about 600 Apr. 28, 2004; about 17,300 Nov. 7, 2005, about 33,700 Oct. 25, 2006 immunoinformatics: The application of bioinformatics and molecular modelling to molecules of the immune system, is a relatively new scientific discipline. In addition to the application of our existing protein modelling expertise to immunological membrane proteins, we are also trying to develop new approaches to the problem of epitope prediction. These approaches include the use of robust multivariate statistics and molecular dynamic simulation. Bioinformatics Group, Edward Jenner Institute for Vaccine Research, UK, 2002 http://www.jenner.ac.uk/res-bio.htm Google = about 199 May 8, 2003; about 5,190 Apr. 28, 2004 immunome, immunomics, immunoproteomics : -Omes & omics glossary immunotechnology: Technology based on applications of cells and molecules of the immune system. A major research interest is the application of human recombinant antibodies and antibody fragments in medical and industrial applications, as well as studies of mechanisms underlying somatic mutations in B cells and IgE switch in allergy. The use of synthetic antibodies in proteome analysis, including protein array technology is also pursued as well as gene array analysis of the transcriptome. B cell malignancies is one focus in antibody and gene therapy projects as well as viral infection in molecular breeding projects. [Dept. of Immunotechnology, Lund Univ., Sweden, 2002 http://www.immun.lth.se/ Google = about 5,620 June 10, 2004 Immunotherapeutics and Vaccines, Aug 21-24 2007, Cambridge MA immunotherapy: Refers to any approach aimed at mobilizing or manipulating a patient's immune system to treat or cure disease. Although the term has been most often associated with therapies for established malignancies, immunotherapy is of increasing interest as an approach to arrest cancer at a much earlier stage. In addition as illustrated i the accompanying articles, immunotherapy is pertinent to the investigation and treatment of transplantation, autoimmunity, chronic inflammation, and infectious disease. Ralph M Steinman and Ira Mellman, Immunotherapy; Bewitched, Bothered and Bewildered No more. Science 305: 197- 200, 9 July 2004 The concept of using the immune system to treat disease, for example, developing a vaccine against cancer. Immunotherapy may also refer to the therapy of diseases caused by the immune system, allergies for example. [NHGRI] Manipulation of the host's immune system in treatment of disease. It includes both active and passive immunization as well as immunosuppressive therapy to prevent graft rejection. MeSH, 1973 Google = about 305,000 June 10, 2004 infectious diseases: Drug discovery & development glossary Narrower terms: biodefense, BSE, CJD, molecular piracy, National Prion Disease Pathology Surveillance Center, molecular diagnostics, pathogenomics, pathology informatics, pathome, prion, PrP, PrPC proteins, PrPSc proteins, TSE, vCJD; Omes & omics microbiome inflammation: While significant breakthroughs have occurred in our understanding of inflammation, research is needed to further understand inflammatory processes. Because inflammation is broadly implicated in many diseases and conditions, this initiative would be valuable in uncovering as-yet-unknown immune mechanisms and mediators of inflammation as well as genetic factors, environmental triggers, and the relationship of inflammation to disease. New Roadmap Emphasis areas for 2008, NIH Roadmap, http://nihroadmap.nih.gov/2008initiatives.asp inflammatory bowel disease IBD: See Drug discovery and development glossary Inflammatory diseases 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 : The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases. American College of Medical Genetics, Mission Statement, 2001-2007 http://www.acmg.net/AM/Template.cfm?Section=Mission_Statement&Template=/CM/HTMLDisplay.cfm&ContentID=2103 medical genomics: Term that is sometimes used interchangeably with clinical genomics. For the purposes of this report, medical genomics refers to any application of genomics to medicine, which includes preclinical as well as clinical applications. Those areas of medical genomics that occur in laboratory or clinical settings would therefore be considered a type of clinical genomics. CHA Cambridge Healthtech Advisors, Clinical Genomics: The Impact of Genomics on Clinical Trials and Medical Practice report, 2004 Google = about 2,030 Mar. 10, 2003; about 6,050 June 10, 2004 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 metabolic syndrome: Is a cluster of risk factors for atherosclerotic disease and type 2 diabetes mellitus comprising obesity, insulin resistance, hypertension, and dyslipidemia. The eligible treatment population in the U.S. for these four conditions is currently 40 million patients and will nearly double over the next 15 years, bringing unprecedented social and economic impacts. CHA Cambridge Healthtech Advisors, Metabolic Syndrome, Pipeline Analysis and US Market Forecast report, 2005 http://www.insightpharmareports.com/reports/2005/44_Metabolic_Syndrome/overview.asp 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 diagnostic tests are now used for a wide range of applications, including: Human clinical molecular diagnostic testing , Veterinary molecular diagnostic testing, Identity testing, Forensic testing, Histocompatibility testing Insight Pharma Reports: Molecular Diagnostics: A Rapidly Shifting Commercial and Technology Landscape , 2007 The molecular diagnostics industry is experiencing explosive growth. Innovation and strategic planning is needed to realize the commercial potential from applied genomics. The number of product offerings for molecular profiling that allow the early detection, prognosis, and treatment of disease are increasing substantially. But the advance of companion diagnostics has been slow to take hold. There are many questions to be answered: how will drug-diagnostic companion products be co-launched? How will each component be valued? How will joint submissions be regulated? Despite the uncertainty, there are incredible opportunities for partnership in this emerging area of personalized medicine. Come prepared to take part in the dialogue and learn from the key players how molecular diagnostics will impact the practice of medicine. Molecular Diagnostics: Partnerships in Personalized Medicine, Molecular Medicine, March 25- 28 2008, San Francisco CA The scope note of the Journal of Molecular Diagnostics mentions "translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries with direct application to clinical diagnostics or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods for diagnosis or monitoring of disease predisposition." [Journal of Molecular Diagnostics, Association for Molecular Pathology] http://jmd.amjpathol.org/misc/ifora.shtml "The term molecular diagnostics has a relatively narrow clinical definition, namely, the use of nucleic acids as analytes in assays designed to investigate given disease states." Review by Charles P. Cartwright of Molecular Diagnosis of Infectious Diseases by U. Reischl, Humana Press, 1998, American Journal of Clinical Pathology Archive. Is this changing? The first molecular diagnostic products to reach the market included tests for detection for viral RNA or DNA, genetic tests, and tests to determine risk for developing certain cancers, such as breast or colon cancer. Now, a wealth of genomic data is enabling researchers to predict a patient's response to therapy based on the genetic make- up of a tumor (in the case of cancer), the viral genotype (for viral infections), or the genetic make- up of the patient (for a wide variety of conditions). HIV genotyping is an early example of how treatment decisions are made based on the genotype of the virus. Genetic polymorphisms of certain cytochrome P450 enzymes can affect how a patient metabolizes certain drugs, and thus can affect effectiveness or toxicity of these drugs in certain patients. Potential applications for emerging molecular diagnostics tests include genetic testing and susceptibility testing, diagnosis of disease, and determining prognosis. Google = about 70,200 June 10, 2004, about 244,000 Aug. 22, 2005; about 824,000 Nov. 10, 2006
Broader term: diagnostics See also Bibliography [McNerney] below. molecular diagnostics techniques: MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Included are such techniques as IN SITU HYBRIDIZATION of chromosomes for CYTOGENTIC ANALYSIS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS of gene expression patterns in disease states; identification of pathogenic organisms by analysis of species specific DNA sequences; and detection of mutations with PCR (POLYMERASE CHAIN REACTION). MeSH, 2002 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. caBigTM and Molecular Medicine, NCI, NIH http://cabig.cancer.gov/molecular/overview.asp 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 Molecular Medicine Tri-Conference March 25-28, 2008 • San Francisco CA Sessions include Cancer molecular markers, Clinical Trials Asia, Cytokine based therapeutics, Medicinal Chemistry, Molecular Diagnostics, Pathway analysis, Preclinical Development, R&D Risk Mitigation, Stem cells, Translational medicine, Trends in Drug Safety Molecular Medicine, PharmaWeek http://www.pharmaweek.com/topic_MolecularMedicine.asp Related terms:
clinical proteomics, translational medicine; molecular pathology: The collection and analysis of tissue samples is a long- established technique in pathology. What is new in "molecular pathology" is the emphasis on assessing gene expression in addition to morphology, and the use of gene expression analysis to validate large numbers of targets. (However, histochemistry and immunohistochemistry have been used, for specific proteins, since before the advent of genomics.) Corporate genomic researchers are increasingly seeking access to human tissue sa |
