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Molecular Medicine glossary and taxonomy
Genomics
is far from being well 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.
Related glossaries include
Ethics;
Biomarkers
Clinical trials
Drug
safety & pharmacovigilance
Molecular
diagnostics
Molecular Medicine Tri Conference 2019 March
10-15 • San Francisco, CA
Program
includes Molecular Diagnostics & Digital Health,
Liquid Biopsy & Immuno-Oncology and Bio-IT World
West
All of US Research program, NIH
https://allofusresearchpriorities.ideascale.com/
The All
of Us Research
Program, led by the National Institutes of Health, aims to build one of
the largest, most diverse datasets of its kind to help speed up research
on many different health conditions. We hope that 1 million or more people
across the country will join. Participants will share information about
their health, habits, and what it’s like where they live. By looking for
patterns in the data, researchers may learn more about the factors that
affect our health. The program will last for many years and allow us to
study health over time.
behavioral genetics:
http://en.wikipedia.org/wiki/Behavioural_genetics
behavior genomics:
The probabilistic rather than deterministic influence of genes on
behavior means that some of the ethical specters raised by the advent of behavioral genomics probably have little substance.
... For example, it has sometimes been suggested that geneticization is likely to increase the stigma of mental disorders. To the contrary, far from increasing the stigma, advances in genetics have the opposite effect. As a case in point, it is now perfectly acceptable for an
ex- president of the United States and his family to acknowledge that he has Alzheimer's disease, a disorder for which much progress has been made in understanding its basis at a molecular level. In the recent past this might have been called "going senile" and would have been seen as somehow morally reprehensible. We predict that this is the start of a trend and that identifying genes involved in behavioral disorders will do much to improve public perception and tolerance of
behavioral disorders. Peter McGuffin "Toward Behavioral Genomics"
Science 291 (5507): 1232- 1249 Feb. 16, 2001 Related terms: behavioral genetics;
Diagnostics & genetic testing
"designer babies"
channelopathy:
Wikipedia
http://en.wikipedia.org/wiki/Channelopathy
includes list of examples. Related term:
Pharmaceutical
biology ion channels
chemotherapy:
Treatment with anticancer
drugs
Synonyms: Drug treatment (drug therapy), medication therapy,
pharmacotherapeutics, pharmacotherapy Genetics Home Reference,
National Library of Medicine, NIH
http://ghr.nlm.nih.gov/ghr/glossary/chemotherapy
Often
refers to cancer treatments, but is also used more generally for drug therapy,
particularly antimicrobial drugs.
chronome:
Derived from chronos
(time), nomos (rule, law) and in the case of biological chronomes,
chromosome, describes features in time, just as cells characterize the spatial
organization of life. The chronome complements the
genome (derived from
gene and chromosome). The chronome consists of 1) a partly genetic, partly developmental,
partly environmentally influenced or synchronized spectrum of rhythms; 2)
stochastic or deterministic chaos; 3) trends with growth, development,
maturation and aging in health and/ or trends with an elevation of disease risk,
illness and treatment in disease; and 4) unresolved variability. The chronome is
genetically coded: it is environmentally synchronized by cycles of the socio-
ecologic habitat niche and it is influenced by the dynamics of the
interplanetary magnetic field. The chronome constituents, the chrones,
algorithmically formulated endpoints, are inferentially statistically validated
and resolved by the computer. Chronomes and their chrones 1) quantify normalcy,
allowing an individualized positive health quantification; 2) assess, by their
alterations, the earliest abnormality, including the quantification of an
elevated risk of developing one (or several) disease(s), chronorisk, by the
alteration of one or several chrones; and 3) provide, by the study of underlying
mechanisms, a rational basis in the search for measures aimed at the prevention
of any deterioration in properly timed, mutually beneficial environmental-
organismic interactions. Franz Halberg et. al "The Story Behind: Chronome/
chrone" Neuroendocrinology Letters 20: 101 1999
http://scienceblogs.com/clock/2006/12/03/jumping-on-the-omics-bandwagon/
Gubin D,
Halberg F. et. al, "The human blood pressure chronome: a biological gauge of
aging" In Vivo 11 (6): 485- 494, Nov- Dec. 1997
chronomics:
Technology allows the monitoring of
ever denser and longer serial biological and physical environmental data. This
in turn allows the recognition of time structures, chronomes, including, with an
ever broader spectrum of rhythms, also deterministic and other chaos and trends.
Chronomics thus resolves the otherwise impenetrable "normal range" of
physiological variation and leads to new, dynamic maps of normalcy and health in
all fields of human endeavor, including, with health care, physics, chemistry,
biology, and even sociology and economics. [F. Halberg et. al. "Essays on
chronomics spawned by transdisciplinary chronobiology. Witness in time: Earl
Elmer Bakken" Neuroendocrinology Letters 22 (5): 359- 384 Oct. 2001 Narrower terms:
bacterial chronomics, cardio-chronomics
chronotherapy:
The adaptation of the administration of drugs to circadian
rhythms. The concept is based on the response of biological functions to
time-related events, such as the low point in epinephrine levels between 10 p.m.
and 4 a.m. or the elevated histamine levels between midnight and 4 a.m. The
treatment is aimed at supporting normal rhythms or modifying therapy based on
known variations in body rhythms. While chronotherapy is commonly used in cancer
chemotherapy, it is not restricted to cancer therapy or to chemotherapy. MeSH,
1997
clinical
endpoint: Biomarkers
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
Related terms:
molecular medicine, translational medicine
cogniceuticals:
Drugs that work on 'knowing' - memory, learning, attention. They
are 'the fastest-growing neuro-pharmaceutical market' and are set to be so for
several decades, unfolding a 'neurosociety' in which functions of the human mind
are protected and then enhanced in earnest. John Hind, Observer, July 24,
2005
http://observer.guardian.co.uk/magazine/story/0,11913,1534827,00.html
Related terms:
neuroceuticals, neuropharmaceuticals
combination therapy:
or polytherapy is therapy that
uses more than one medication or
modality (versus monotherapy, which is any therapy taken alone). Typically,
these terms refer to using multiple therapies to treat a single disease,
and often all the therapies are pharmaceutical (although it can also involve
non-medical therapy, such as the combination of medications and talk
therapy to treat depression). 'Pharmaceutical' combination therapy may be
achieved by prescribing/administering separate drugs, or, where available, dosage
forms that contain more than one active
ingredient (such as fixed-dose combinations).
Polypharmacy is a
related term, referring to the use of multiple medications (without regard to
whether they are for the same or separate conditions/diseases). Sometimes
"polymedicine" is used to refer to pharmaceutical combination therapy. Most of
these kinds of terms lack a universally consistent definition, so caution and
clarification are often advisable. Wikipedia accessed 2018 Oct 22
https://en.wikipedia.org/wiki/Combination_therapy
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
Related terms:
antifreeze proteins:
Protein
categories; cryobiology:
Cell biology cryochemotherapy:
Cancer; cryoelectron microscopy:
Microscopy; cryoelectron tomography:
Molecular
Imaging; cryogenic probe
NMR
& X-ray crystallography
cryosurgery (cryotherapy)
is the use of extreme cold in surgery to
destroy abnormal or diseased tissue;[1] thus,
it is the surgical application of cryoablation.
The term comes from the Greek words cryo (κρύο) ("icy cold")
and surgery (cheirourgiki – χειρουργική) meaning "hand work" or
"handiwork". Cryosurgery has been historically used to treat a number of
diseases and disorders, especially a
variety of benign and malignant skin conditions.[2]
Wikipedia accessed 2018 Oct 22
https://en.wikipedia.org/wiki/Cryosurgery
determinism (genetic):
Philosophical doctrine that human action is not free but determined by
external forces. Oxford English Dictionary There has already been much debate about nature vs. nurture, and we clearly still have much to learn about
the interplay among various influences.
The relevance of chaos theory and complexity seem likely to become increasingly
clear. Note the reference to determinism in the second paragraph of
this glossary.
One of the more useful metaphors I've found is weather
prediction. We are better now at predicting and reporting on hurricanes than
we were 100 years ago, but are far from being able to control storms, or insure
a sunny day when planning events. We now have building codes for earthquake
and hurricane prone areas (but can't predict earthquakes) and continue to build on flood plains and
fragile barrier islands.
disease
etiology: Disease is a fluid concept
influenced by societal and cultural attitudes that change with time and in
response to new scientific and medical discoveries. Historically, doctors defined
a disease according to a cluster of symptoms. As their clinical descriptions
became more sophisticated, they started to classify diseases into separate
groups, and from this medical taxonomy came new insights into disease
etiology. Larissa K. F. Temple, Robin S. McLeod,
Steven Gallinger, James G. Wright ESSAYS ON SCIENCE AND SOCIETY: Defining
Disease in the Genomics Era Science 3 August 2001: Vol. 293. no. 5531,
pp. 807 - 808 DOI: 10.1126/science.1062938
http://www.sciencemag.org/cgi/content/full/293/5531/807
disease expression:
When a disease genotype is manifested in the phenotype.
disease interventions:
Clinical trials:
interventions Related terms: "good genes", "bad genes"; environmental factors
disease management:
The somewhat graceless term the health care industry uses to describe efforts to monitor the medical problems of chronically ill patients while helping them stick to their treatment plans.
New Model for Disease Management, McKinsey Quarterly, No. 4, 2001
disease phenotypes:
Disease related tissues, which now seem very similar (even to pathologists)
may be quite distinguishable at the molecular level. Gene and protein expression analysis
and interpretation studies, particularly at the whole genome level are
just beginning to produce intriguing results, and the National Cancer Institute
(US) and other places are working on comparisons of gene expression in
"normal" and diseased tissues. Improvements in technology are needed.
Higher throughput, greater reliability and reproducibility and more automation
are among the challenges. Greater knowledge of population genetics and population
genomics should
also be useful.
diseases:
The human genome sequence will dramatically alter how we define, prevent, and treat disease. As more and more genetic variations among individuals are discovered, there will be a rush to label many of these variations as
disease- associated. We need to define the term disease so that it incorporates our expanding genetic knowledge, taking into account the possible risks and adverse consequences associated with certain genetic variations, while acknowledging that a definition of disease cannot be based solely on one genetic abnormality.
Disease is a fluid concept influenced by societal and cultural attitudes that change with time and in response to new scientific and medical discoveries. Historically, doctors defined a disease according to a cluster of symptoms. As their clinical descriptions became more sophisticated, they started to classify diseases into separate groups, and from this medical taxonomy came new insights into disease etiology.
K Larissa et. al. "Defining Disease in the Genomics Era" Science
293 (5531): 807- 808, Aug. 3, 2001
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 diseasome:
Recently, Goh et
al. (1)
constructed a “diseasome”
network in which two diseases are linked to
each other if they share at least one gene, in which mutations are
associated with both diseases. In the resulting network, related disease
families cluster tightly together, thus phenotypically defining functional
modules. Importantly, for the first time this study applied concepts from
network biology to human diseases, thus opening the door for discovering
causal relationships between dysregulated networks and resulting ailments.
PNAS
vol. 105 no. 29: 9849–9850 July
16 2008
Networking
metabolites and diseases Pascal
Braun*,†,‡, Edward
Rietman*,§,Marc
Vidal*
http://www.pnas.org/content/105/29/9849.full?sid=33dcc3f9-1097-4ceb-b527-d8971e6f50fb
drug: Regulatory
Narrower term: genomic drugs
drug interactions:
Examples of drug interaction terms include adverse drug interaction, drug- drug
interaction, drug- laboratory interaction, drug- food interaction, etc. Drug
interaction is defined as, "An action of a drug on the effectiveness or toxicity
of another drug". .. Due to non- uniform usage of these terms, it is sometimes
difficult to compare various studies and derive incidence rates, etc. for ADRs,
and Drug Interactions Saeed A Khan, "Drug Interaction or Adverse
Drug Reaction? Confusing Terms", British Medical Journal 10 July, 1998
http://www.bmj.com/rapid-response/2011/10/27/drug-interaction-or-adverse-drug-reaction-confusing-terms
Related terms: Drug
safety adverse drug event ADE, adverse drug
reaction ADR
drug
utilization research: was
defined by WHO in 1977 as «the marketing, distribution, prescription, and
use of drugs in a society, with special emphasis on the resulting medical,
social and economic consequences». Since then, a number of other terms
have come into use and it is important to understand the
interrelationships of the different domains… Drug utilization research may
also be divided into descriptive and analytical studies. The emphasis of
the former has been to describe patterns of drug utilization and to
identify problems deserving more detailed studies. Analytical studies try
to link data on drug utilization to figures on morbidity, outcome of
treatment and quality of care with the ultimate goal of assessing whether
drug therapy is rational or not. … Drug utilization research is thus an
essential part of pharmacoepidemiology as it describes the extent, nature
and determinants of drug exposure. Over time, the distinction between
these two terms has become less sharp, and they are sometimes used
interchangeably. However, while drug utilization studies often employ
various sources of information that focus on drugs (e.g. aggregate data
from wholesale and prescription registers) the term epidemiology implies
defined populations in which drug use can be expressed in terms of
incidence and prevalence … Drug utilization research also provides insight
into the efficiency of drug use, i.e. whether a certain drug therapy
provides value for money and the results of such research can be used to
help to set priorities for the rational allocation of health care
budgets. Introduction to drug utilization research, WHO World Health
Organization 2003 http://apps.who.int/medicinedocs/en/d/Js4876e/2.html
epidemiology:
the study and analysis of the distribution (who, when, and where) and determinants of
health and disease conditions in defined populations.
…Major areas of epidemiological study include disease causation, transmission, outbreak investigation, disease
surveillance, forensic
epidemiology, occupational
epidemiology, screening, biomonitoring,
and comparisons of treatment effects such as in clinical
trials. Wikipedia accessed 2018 Nov 5
https://en.wikipedia.org/wiki/Epidemiology
Related term:
Clinical informatics population
health
environmental factors:
May include chemical, dietary factors,
infectious agents, physical and social factors. Related term public
health
epidemiology: the study of the
distribution and determinants of health-related states or events (including
disease), and the application of this study to the control of diseases and other
health problems. Various methods can be used to carry out epidemiological
investigations: surveillance and descriptive studies can be used to study
distribution; analytical studies are used to study determinants. World
Health Organization
http://www.who.int/topics/epidemiology/en/
the study and analysis of the distribution (who,
when, and where) and determinants of
health and disease conditions in defined populations.
It is the cornerstone of public
health, and shapes policy decisions and evidence-based
practice by identifying risk
factors for disease and targets for preventive
healthcare. Epidemiologists help with study design, collection, and statistical
analysis of data, amend interpretation and dissemination of results
(including peer review and
occasional systematic
review … Major areas of epidemiological study include disease
causation, transmission, outbreak investigation, disease
surveillance, forensic
epidemiology, occupational
epidemiology, screening, biomonitoring,
and comparisons of treatment effects such as in clinical
trials. Wikipedia accessed 2018 Nov 8
https://en.wikipedia.org/wiki/Epidemiology Related terms: public health, environmental factors;
Narrower terms: genomic epidemiology, human genome epidemiology,
molecular epidemiology
experimental
medicine:
The use of innovative measurements, models
and designs in studying human subjects for establishing proof of mechanism and
concept of new drugs, for exploring the potential for market differentiation for
successful drug candidates, and for efficiently terminating the development of
unsuccessful ones. Bruce H. Littman and Stephen A. Williams, The ultimate model
organism: progress in experimental medicine, Nature Reviews Drug Discovery,
4(8): 631- 638 2005
functional
foods: "[F]oods and beverages with claimed
health benefits based on scientific evidence". Health claims need to be
substantiated scientifically. The future of functional foods will heavily rely
on proven efficacy in well- controlled intervention studies with human
volunteers. H Verhagen et. al,
Assessment
of the efficacy of functional food ingredients - introducing the concept
"kinetics of biomarkers" Mutation Research 551(1-2): 65- 78, July
13, 2004 Related terms:
nutrigenomics gene therapy:
Biologics
genetic
determinism:
The theory that human
CHARACTER
and
BEHAVIOR
are shaped by the
GENES
that comprise the individual's
GENOTYPE
rather than by
CULTURE;
ENVIRONMENT;
and individual choice. MeSH 2003 Was "behavioral genetics"
genetics:
Refers to the study of heredity, gene and genetic material.
However, genetics is also a term used in contrast to genomics because of its
traditionally lower- throughput, smaller- scale emphasis on single genes, rather
than on many genes simultaneously as in genomics. CHA Cambridge
Healthtech Advisors, Clinical
Genomics: The Impact of Genomics on Clinical Trials and Medical Practice
report, 2004
Clearly defined terminology should form the basis for
informative discussions so that the word ‘genetics’ is not demonized.
For example, tests that are specific to disease genes can help diagnose
disease, determine the carrier status of an individual or predict the occurrence
of disease. These are quite distinct from profiles ... which provide information
on how a medicine will be metabolized in an individual. … Language needs
to be more precise so that there can be clarity, especially for public
policy debates. Allen D. Roses “Pharmacogenetics and the practice
of medicine” Nature 405: 857- 865 June 15 2000 Related terms:
Genetic testing
"good genes"
"bad genes"", predisposition, susceptibility, public health,
heterozygous, homozygous Narrower term cytogenetics
genotypic prevention: See under phenotypic
prevention
global health:
Common Fund's Global Health program supports
biomedical research and training in low and middle-income countries across
three continents and focuses on a wide range of chronic, non-communicable
diseases such as cardiovascular disease, maternal-child health, mental
health, emergency medicine, and low birth weights; as well as
on infectious diseases like HIV/AIDS and tuberculosis.
https://commonfund.nih.gov/globalhealth
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:
The first attempt at an official definition
for "health disparities" was developed in September 1999, in response to a White
House initiative. The National Institutes of Health (NIH), under the direction
of then-director Dr. Harold Varmus, convened an NIH-wide working group, charged
with developing a strategic plan for reducing health disparities. That group
developed the first NIH definition of "health disparities:" “Health disparities
are 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.”
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. 2498 Center for the Elimination of
Minority Health Disparities Taken from National Cancer Institute website
(http://www.cancer.gov/cancertopics/types/disparities)
https://www.albany.edu/cemhd/9142.php
Narrower term:
Cancer cancer health disparities
human gene
transfer:
the
process of transferring genetic material (DNA or RNA) into a person. This
experimental technique is being studied to see whether it could treat certain
health problems by either compensating for defective genes, prompting the body
to make a potentially therapeutic substance, or triggering the immune system to
fight disease. This type of experimentation is sometimes called "gene
therapy" research.
human Microbiome:
While the Human Microbiome Project, MetaHIT and other huge studies of
human microbiota, have garnered a lot of attention over that past few
years, the microbiome space has literally exploded in terms of both basic
and applied biomedical research. This report focuses on biomedical aspects
of research, development, and commercial endeavors in the human microbiome
space. It includes essential background information, evolution of the
field, advances in basic research, events in the emerging commercial
market, deal activity, interviews with experts, and trends in microbiome
research and commerce. Insight Pharma Reports
Human Microbiome: Advancing New Frontiers in a Rapidly Emerging
Market
2016 Medbiquitous
Consortium:
Technology standards based on XML and webservices.
http://www.medbiq.org/
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
resequencing:
Key parts of suspect
genes are sequenced and compared between patients and controls to identify
genetic variations that may contribute to disease. Richard Gibbs, "Deeper
into the genome" Nature 7063:1233- 1234, 27 Oct. 2005
microbiome based
precision medicine
using the microbiome as a tool for generating personalized diagnostics and
therapeutics 2019 March 14-15 San Francisco The microbiome R&D is an
area of science that is continuing to prove its importance. A PubMed
search on the term “human microbiome” yielded 300 citations in 2003, 4,498
citations in 2013, and 38,318 citations in 2018. Basic and applied
biomedical research from the Human Microbiome Project and other
independent studies prove that a disruption of a stable microbiome
ecosystem results in dysbiosis. This imbalance leads to chronic disease
and health conditions like inflammation, metabolic disorders, gut
disorders, obesity, type 2 diabetes, autoimmune disorders, inflammatory
bowel disease, neurodevelopmental disorders and more. There is great
promise in correlating the microbiome compositions with these diseases and
using the microbiome as a tool for therapeutic, diagnostic and product
development.
http://www.triconference.com/Microbiome/
molecular anatomy:
http://en.wikipedia.org/wiki/Molecular_anatomy
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:
Molecular Medicine Tri Conference 2020 March 1-4 • San Francisco, CA
Program
https://www.triconference.com/ Expert Reviews in
Molecular Medicine coverage includes
genetic testing vaccines pathogenesis epidemiology
genomics gene therapy drug design diagnostics and techniques. Expert Reviews in Molecular Medicine,
Cambridge Univ. Press
http://journalseek.net/cgi-bin/journalseek/journalsearch.cgi?field=issn&query=1462-3994
The Journal
of Molecular Medicine publishes
reports describing major advances in the understanding, prevention,
diagnosis, or treatment of human disease through the application of
molecular biology and gene technology, a research discipline that has
become known as molecular medicine.. Journal of Molecular Medicine, Springer, Aims and Scope
http://www.springer.com/biomed/molecular/journal/109
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/about
Related terms:
clinical proteomics, translational medicine molecular therapeutics:
The goal of the Molecular Therapeutics Program
is to foster the exchange of ideas, cooperation, and collaboration leading
to translation of basic research into the clinic, and to use basic
research to answer clinical questions related to improving strategies for
the treatment of cancer.
The
Program provides a forum for discussion of new developments in cellular
and molecular biology, with focus on cell cycle regulation, signal
transduction, apoptosis and differentiation, as well as development of
potentially novel therapeutic strategies within these foci. Dartmouth
Hitchcock Norris Cancer Center
http://cancer.dartmouth.edu/researchers/molecular-therapeutics.html
http://cancer.dartmouth.edu/researchers/molecular-areas-focus.html
morbidity - compressing:
Ultimately only premature mortality can
be reduced (in various ways such as by stopping smoking, wearing seatbelts
and helmets). With a number of (first world) countries having rapidly aging
populations we are just beginning to see some of the tradeoffs involved
in extending longevity for a number of people.
mortality - reducing:
In the long run mortality is going to be
100%, and every family has a history of it. Compressing morbidity
may be a more realistic goal. Reducing premature mortality (by improving
rates of seat belt wearing, reducing smoking and alcohol use and gun control) is
a more sustainable goal.
nanomedicine:
The
goal of the Common Fund's Nanomedicine program is to determine
how cellular machines operate at the nanoscale level and then use these design
principles to develop and engineer new technologies and devices for repairing
tissue or preventing and curing disease. Nanomedicine, NIH
Common Fund http://commonfund.nih.gov/nanomedicine/
The monitoring, repair, construction
and control of human biological systems at the molecular level, using
engineered nanodevices and nanostructures. Robert A. Freitas,
Nanomedicine, Foresight Institute, 1998- 2002
http://www.foresight.org/Nanomedicine/
Nanomedicine
glossary:
http://www.nanotech-now.com/nanotechnology-medicine-glossary.htm
National Institute of General Medical
Sciences NIGMS:
Part of
NIH, supports biomedical research not targeted to specific diseases or
disorders. Divisions of Cell Biology and Biophysics; Genetics and Developmental
Biology; and Pharmacology, Physiology, and Biological Chemistry support
research
http://www.nigms.nih.gov/
normal:
That we can walk around with all of this stuff.
It's almost liberating—the fact that there is no perfect genome—that all of
us are made up of deletions and structural changes and copy number variations.
It's amazing that any of us are “normal”. And maybe none of us really
are—and that's the beauty of it! Gitschier J (2008) Stable in a Genome of
Instability: An Interview with Evan Eichler. PLoS Genet 4(7): e1000124.
doi:10.1371/journal.pgen.1000124
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000124
Defining "normal" is a major problem," stated Dr. [Julio]
Celis. As many researchers know, the pathology of samples can be open to
interpretation, and robust parameters must be delineated and adhered to when
defining normal versus various stages of pathology. Defining the Mandate of
Proteomics in the Post- Genomics Era, Board on International Scientific
Organizations, National Academy of Sciences, 2002
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:
a
branch of nutritional
genomics and
is the study of the effects of foods and
food constituents on gene
expression.[1] This
means that nutrigenomics is research focusing on identifying and understanding
molecular-level interaction between nutrients and
other dietary bioactives with
the genome.[2] Nutrigenomics
has also been described by the influence of genetic variation on nutrition,
by correlating gene expression
or SNPs with
a nutrient's absorption, metabolism,
elimination or biological effects. nutritional genomics:
Has been used for decades for certain monogenic diseases;
however, the challenge is to implement a similar concept for common
multifactorial disorders and to develop tools to detect genetic predisposition
and to prevent common disorders decades before their manifestation. The
preliminary results involving gene- diet interactions for cardiovascular
diseases and cancer are promising, but mostly inconclusive. Success in this area
will require the integration of different disciplines and investigators working
on large population studies designed to adequately investigate gene- environment
interactions. JM Ordovas, D Corella,
Nutritional
genomics. Annual Review Genomics Human Genetics 5: 71-118, 2004
Related terms: agricultural genomics, food genomics,
plant genomics
personalized
medicine:
As
defined by the President’s Council on Advisors on Science and Technology,
“Personalized Medicine” refers to the tailoring of medical treatment to the
individual characteristics of each patient…to classify individuals into
subpopulations that differ in their susceptibility to a particular disease or
their response to a specific treatment. Preventative or therapeutic
interventions can then be concentrated on those who will benefit, sparing
expense and side effects for those who will not. About the Personalized
Medicine Coalition
http://www.personalizedmedicinecoalition.org/about
The increased
emphasis on personalized therapy has affected the entire process of drug
discovery, development and marketing. Pharmaceutical companies must adjust
their strategies, starting from target identification to validation,
clinical trials, approval processes, and marketing in order to fit into the
new concept. Successful collaboration with diagnostics partners has become a
cornerstone in the efforts to bring to the market tailored and targeted
therapies, with companion tests helping to match the right drug to the right
patient. more in
Pharmacogenomics
phenotypic prevention:
Authors participating in the renewed
discussion of germ-line gene therapy have begun conflating two senses of
the term "prevention," which I distinguish as "phenotypic prevention" and
"genotypic prevention." Phenotypic prevention describes
medical efforts to forestall the clinical manifestation of a genetic
disease in an at-risk patient, like newborn screening and dietary
prophylaxis for phenylketonuria. Genotypic prevention, by contrast,
describes efforts to avoid the transmission of particular genotypes to the
next generation, like selective termination following intrauterine
diagnosis. Genotypic prevention is either performed on behalf of a
prospective parent (or two) as a reproductive risk reduction strategy, or
as a public health intervention to reduce the incidence of a disease in
the larger population. Conflating phenotypic and genotypic prevention in
discussions of germ-line gene therapy is dangerous, because it blurs the
line (well-established in clinical genetics) between medical interventions
appropriate to prescribe to individuals and families, and reproductive
choices that should be theirs alone to make.
“Prevention” and the Goals of Genetic Medicine Eric T. Juengst, Human
Gene Therapy 1995 6:12, 1595-1605 https://www.ncbi.nlm.nih.gov/pubmed/8664384
Related terms environmental factors, molecular epidemiology, public health.
physiogenomics, physiome, physiomics: -Omes &
-omics
precision medicine:
A
more targeted approach to disease – is already becoming a reality in cancer,
where molecular diagnosis is leading to better defined, individualized
treatments with improved outcomes. Precision medicine is also the basis for
planning large-cohort studies, using genomics and phenotyping (physiological and
behavioral characteristics) to improve diagnostics and therapeutics across
medicine.
The idea is to integrate clinical data with other
patient information to uncover disease subtypes and improve the accuracy with
which patients are categorized and treated. Brain disorders? Precisely:
Precision medicine comes to psychiatry. Thomas R. Insel and Bruce N. Cuthbert,
Science 1 May 2015
Vol. 348 no. 6234 pp. 499-500
Many
believe that personalized medicine technologies, such as next-generation
sequencing, have propelled us to the tipping point of a new era in healthcare -
precision medicine. Stakeholders are now faced with the perplexing economic and
regulatory issues of balancing the promise of new genome-driven medicines with
the associated trade-offs of longer and higher development risk for Rx and CDx
innovators, increased evidence standards for regulators, reimbursement concerns
for patients, and unclear value for payers.
More in Pharmacogenomics &
Personalized Medicine
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/AAG/index.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. Related terms: morbidity (compressing), mortality (reducing), phenotypic
prevention.
Genomics and World Health, World Health
Organization, 2002
http://whqlibdoc.who.int/hq/2002/a74580.pdf Other patient and disease related
resources: See Cancer,
Diagnostics,
Patient
resources
quantified self:
[Mike] Snyder made waves several years ago when he took the “quantified
self” concept to new frontiers, measuring close to as much about himself
as possible at that time. Metabolism, blood chemistry, activity — hundreds
and hundreds of data points a day tracked the minutiae of his life and
yielded some interesting findings. Now he is widening the scope of the
research. Snyder’s lab is working with 100 healthy volunteers who
agreed to provide even more measurements, including a deep dive into their
genome sequences. They also gather data continually with wearables and
smart phones, including activity and metabolism. In addition, Snyder and
his team are looking at as many molecules as they can in blood and urine:
the transcriptome (all messenger RNA), the proteome (all proteins), the
metabolome (metabolic compounds and by-products), antibody profiles and so
on. Finally, they’re monitoring the microbiome at five sites in and on the
body. Snyder made waves several years ago when he took the “quantified
self” concept to new frontiers, measuring close to as much about himself
as possible at that time. Metabolism, blood chemistry, activity — hundreds
and hundreds of data points a day tracked the minutiae of his life and
yielded some interesting findings. Now he is widening the scope of the
research. Snyder’s lab is working with 100 healthy volunteers who agreed
to provide even more measurements, including a deep dive into their genome
sequences. They also gather data continually with wearables and smart
phones, including activity and metabolism. In addition, Snyder and his
team are looking at as many molecules as they can in blood and urine: the
transcriptome (all messenger RNA), the proteome (all proteins), the
metabolome (metabolic compounds and by-products), antibody profiles and so
on. Finally, they’re monitoring the microbiome at five sites in and on the
body.
rare diseases:
Drug Discovery for Rare Diseases
Exploring New Technologies, Targets and Drug Modalities
regenerative
medicine:
A field of medicine concerned with developing and using strategies
aimed at repair or replacement of damaged, diseased, or metabolically deficient
organs, tissues, and cells via TISSUE ENGINEERING; CELL TRANSPLANTATION; and
ARTIFICIAL ORGANS and BIOARTIFICIAL ORGANS and tissues. MeSH 2004
Embryonic stem cells are a unique type of
cell because they are "pluripotent", that is, they can divide
and grow in to any type of adult cell type e.g. heart cells, bone cells,
or neurons. They therefore hold great potential in repairing tissue
damaged by disease or injury. A recent discovery showed that a type of
adult stem cell resembling an embryonic stem cell can be made by using
viruses to ferry specific genes in to skin cells that induce these cells
to revert to a pluripotent cell state These so called "induced
pluripotent stem cells" or iPS cells are just one type of adult stem
cell that can be explored for use in cellular therapies. The Common
Fund is supporting the establishment of an NIH Center for Regenerative
Medicine (NCRM) to serve as a stem cell resource for the scientific
community, providing stem cells, as well as the supporting protocols and
standard operating procedures used to derive, culture, and differentiate
them in to different cell types. NIH Center for Regenerative Medicine, NIH
Common Fund
http://commonfund.nih.gov/stemcells/overview.aspx
Related terms: stem cells translational
medicine: Recent advances in biological understanding are allowing
pharmaceutical companies to begin to develop tailored therapeutics, thereby
allowing patients to receive the right drug, at the right dose, and at the right
time. However, in order for such treatments to be developed, companies need to
be able to better link data from the laboratory to the clinic (bench to
bedside). This concept is frequently referred to as translational medicine.
Semantic Web Health Care and Life Sciences SIG Charter, 2008
http://www.w3.org/2008/05/HCLSIGCharter#translat
the integrated
application of innovative pharmacology tools, biomarkers, clinical
methods, clinical technologies and study designs to improve disease
understanding, confidence in human drug targets and increase confidence in
drug candidates, understand the therapeutic index in humans, enhance
cost-effective decision making in exploratory development and increase
phase II success.
What's
next in translational medicine? Littman BH, Di Mario L, Plebani M,
Marincola FM. What's next in translational medicine? Clin Sci (London) 112
(4): 217- 227, Feb 2007 Related
terms: clinical proteomics, molecular medicine, translational research:
Research
translational
science:
As
the biopharma industry faces the challenge of increasing cost of drug
development, increasing emphasis is placed on strategies to accelerate
clinical development, reduce late-stage attrition and pursue innovation
through collaboration.
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.medicine.ox.ac.uk/bandolier/glossary.html
Despite
the extensive body of evidence that informs regulatory decisions on
pharmaceutical products, significant uncertainties persist, including the
underlying variability in human biology, factors associated with the chemistry
of a drug, and limitations in the research and clinical trial process itself
that might limit the generalizability of results. As a result, regulatory
reviewers are consistently required to draw conclusions about a drug's safety
and efficacy from imperfect data. Efforts are underway within the drug
development community to enhance the evaluation and communication of the
benefits and risks associated with pharmaceutical products, aimed at increasing
the predictability, transparency, and efficiency of pharmaceutical regulatory
decision making. Effectively communicating regulatory decisions necessarily
includes explanation of the impact of uncertainty on decision making.
…This
report explores potential analytical and communication approaches and identifies
key considerations on their development, evaluation, and incorporation into
pharmaceutical benefit- risk assessment throughout the entire drug development
lifecycle. Institute
of Medicine. Characterizing and
Communicating Uncertainty in the Assessment of Benefits and Risks of
Pharmaceutical Products: Workshop Summary.
Washington, DC: The National Academies Press, 2014. The shift to a
post-
Mendelian view of
genetics (with variable penetrance and eventually, insights into polygenic
diseases) and genomics seems likely to result in more uncertainty, not less, at
least for some time. Related term:
Business
risk
management
women's
health:
Yale
Women's Health
Research at Yale pioneers efforts to narrow the gulf in knowledge about
women's health, trains new researchers to continue advancing the science,
and translates findings into practice and public policy
https://medicine.yale.edu/whr/
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#
Molecular Medicine Resources
Healthcare Conferences
http://www.healthtech.com/Conferences/Search.aspx?k=&r=&s=HLTS IUPAC definitions are reprinted with the permission of the International Union of Pure and Applied Chemistry.
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