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In genetics, complementary DNA (cDNA) is DNA synthesized from a single-stranded RNA template in a reaction catalyzed by the enzyme reverse transcriptase. cDNA is often used to express a specific protein in a cell that does not normally express that protein, or to sequence or quantify mRNA molecules using DNA based methods. cDNA that codes for a specific protein can be transferred to a recipient cell for expression, often bacterial or yeast expression systems. cDNA is also generated to analyze transcriptomic profiles in bulk tissue, single cells, or single nuclei in assays such as microarrays, qPCR, and RNA-seq.
Pathology is the study of disease and injury. The word pathology also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in the context of modern medical treatment, the term is often used in a narrower fashion to refer to processes and tests that fall within the contemporary medical field of "general pathology", an area which includes a number of distinct but inter-related medical specialties that diagnose disease, mostly through analysis of tissue and human cell samples. Idiomatically, "a pathology" may also refer to the predicted or actual progression of particular diseases, and the affix pathy is sometimes used to indicate a state of disease in cases of both physical ailment and psychological conditions. A physician practicing pathology is called a pathologist.
Anatomical pathology (Commonwealth) or Anatomic pathology (U.S.) is a medical specialty that is concerned with the diagnosis of disease based on the macroscopic, microscopic, biochemical, immunologic and molecular examination of organs and tissues. Over the 20th century, surgical pathology has evolved tremendously: from historical examination of whole bodies (autopsy) to a more modernized practice, centered on the diagnosis and prognosis of cancer to guide treatment decision-making in oncology. Its modern founder was the Italian scientist Giovan Battista Morgagni from Forlì.
Epidemiology is the study and analysis of the distribution, patterns and determinants of health and disease conditions in a defined population.
The science of epidemiology has matured significantly from the times of Hippocrates, Semmelweis and John Snow. The techniques for gathering and analyzing epidemiological data vary depending on the type of disease being monitored but each study will have overarching similarities.
In pathology, pathogenesis is the process by which a disease or disorder develops. It can include factors which contribute not only to the onset of the disease or disorder, but also to its progression and maintenance. The word comes from Ancient Greek πάθος (pathos) 'suffering, disease', and γένεσις (genesis) 'creation'.
An environmental factor, ecological factor or eco factor is any factor, abiotic or biotic, that influences living organisms. Abiotic factors include ambient temperature, amount of sunlight, and pH of the water soil in which an organism lives. Biotic factors would include the availability of food organisms and the presence of biological specificity, competitors, predators, and parasites.
Fluorescence in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence complementarity. It was developed by biomedical researchers in the early 1980s to detect and localize the presence or absence of specific DNA sequences on chromosomes. Fluorescence microscopy can be used to find out where the fluorescent probe is bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific RNA targets in cells, circulating tumor cells, and tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues.
Personalized medicine, also referred to as precision medicine, is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease. The terms personalized medicine, precision medicine, stratified medicine and P4 medicine are used interchangeably to describe this concept though some authors and organisations use these expressions separately to indicate particular nuances.
In biomedical contexts, a biomarker, or biological marker, is a measurable indicator of some biological state or condition. Biomarkers are often measured and evaluated using blood, urine, or soft tissues to examine normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. Biomarkers are used in many scientific fields.
Surgical pathology is the most significant and time-consuming area of practice for most anatomical pathologists. Surgical pathology involves gross and microscopic examination of surgical specimens, as well as biopsies submitted by surgeons and non-surgeons such as general internists, medical subspecialists, dermatologists, and interventional radiologists.
Molecular epidemiology is a branch of epidemiology and medical science that focuses on the contribution of potential genetic and environmental risk factors, identified at the molecular level, to the etiology, distribution and prevention of disease within families and across populations. This field has emerged from the integration of molecular biology into traditional epidemiological research. Molecular epidemiology improves our understanding of the pathogenesis of disease by identifying specific pathways, molecules and genes that influence the risk of developing disease. More broadly, it seeks to establish understanding of how the interactions between genetic traits and environmental exposures result in disease.
While epidemiology is "the study of the distribution and determinants of states of health in populations", social epidemiology is "that branch of epidemiology concerned with the way that social structures, institutions, and relationships influence health." This research includes "both specific features of, and pathways by which, societal conditions affect health".
Molecular pathological epidemiology is a discipline combining epidemiology and pathology. It is defined as "epidemiology of molecular pathology and heterogeneity of disease". Pathology and epidemiology share the same goal of elucidating etiology of disease, and MPE aims to achieve this goal at molecular, individual and population levels. Typically, MPE utilizes tissue pathology resources and data within existing epidemiology studies. Molecular epidemiology broadly encompasses MPE and conventional-type molecular epidemiology with the use of traditional disease designation systems.
Molecular diagnostics is a collection of techniques used to analyze biological markers in the genome and proteome, and how their cells express their genes as proteins, applying molecular biology to medical testing. In medicine the technique is used to diagnose and monitor disease, detect risk, and decide which therapies will work best for individual patients, and in agricultural biosecurity similarly to monitor crop- and livestock disease, estimate risk, and decide what quarantine measures must be taken.
Shuji Ogino is a molecular pathological epidemiologist, pathologist, and epidemiologist. He is currently Professor of Pathology at Harvard Medical School and Brigham and Women's Hospital, and Professor in the Department of Epidemiology at Harvard T.H. Chan School of Public Health. He is also Chief of Program in MPE Molecular Pathological Epidemiology at Brigham and Women's Hospital, and an associate member of Broad Institute of MIT and Harvard. He has been known for his work on establishing a new discipline, molecular pathological epidemiology, which represents an interdisciplinary science of molecular pathology and epidemiology.
Clinical metagenomic next-generation sequencing (mNGS) is the comprehensive analysis of microbial and host genetic material in clinical samples from patients by next-generation sequencing. It uses the techniques of metagenomics to identify and characterize the genome of bacteria, fungi, parasites, and viruses without the need for a prior knowledge of a specific pathogen directly from clinical specimens. The capacity to detect all the potential pathogens in a sample makes metagenomic next generation sequencing a potent tool in the diagnosis of infectious disease especially when other more directed assays, such as PCR, fail. Its limitations include clinical utility, laboratory validity, sense and sensitivity, cost and regulatory considerations.
Urinary cell-free DNA (ucfDNA) refers to DNA fragments in urine released by urogenital and non-urogenital cells. Shed cells on urogenital tract release high- or low-molecular-weight DNA fragments via apoptosis and necrosis, while circulating cell-free DNA (cfDNA) that passes through glomerular pores contributes to low-molecular-weight DNA. Most of the ucfDNA is low-molecular-weight DNA in the size of 150-250 base pairs. The detection of ucfDNA composition allows the quantification of cfDNA, circulating tumour DNA, and cell-free fetal DNA components. Many commercial kits and devices have been developed for ucfDNA isolation, quantification, and quality assessment.
Precision diagnostics is a branch of precision medicine that involves precisely managing a patient's healthcare model and diagnosing specific diseases based on customized omics data analytics.
Theranostics, also known as theragnostics, is an emerging field in precision medicine that combines diagnostic and therapeutic approaches to provide the potential for personalized treatment and real-time monitoring of the effectiveness of treatments. Improvements in imaging techniques and targeted therapies are the basis of the field of theranostics. When medical imaging is coupled with the development of novel radiotracers and contrast agents, theranostics may provide opportunities for precise diagnosis and targeted therapy.
References
- ↑ Harris TJ, McCormick F (2010). "The molecular pathology of cancer". Nat Rev Clin Oncol. 7 (5): 251–265. doi:10.1038/nrclinonc.2010.41. PMC 2222796 . PMID 20351699.
- 1 2 Cai, H; Caswell JL; Prescott JF (March 2014). "Nonculture Molecular Techniques for Diagnosis of Bacterial Disease in Animals: A Diagnostic Laboratory Perspective". Veterinary Pathology. 51 (2): 341–350. doi: 10.1177/0300985813511132 . PMID 24569613.
- ↑ Ke, Rongqin; Mignardi, Marco; Pacureanu, Alexandra; Svedlund, Jessica; Botling, Johan; Wählby, Carolina; Nilsson, Mats (2013-07-14). "In situ sequencing for RNA analysis in preserved tissue and cells". Nature Methods. 10 (9): 857–860. doi:10.1038/nmeth.2563. ISSN 1548-7091. PMID 23852452.
- ↑ Ogino, Shuji; Stampfer, Meir (17 March 2010). "Lifestyle Factors and Microsatellite Instability in Colorectal Cancer: The Evolving Field of Molecular Pathological Epidemiology". Journal of the National Cancer Institute. 102 (6): 365–7. doi:10.1093/jnci/djq031. PMC 2841039 . PMID 20208016.
- ↑ Ogino S, Chan AT, Fuchs CS, Giovannucci E. Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. Gut 2011; 60: 397-411.
- ↑ Ogino S, Lochhead P, Chan AT, Nishihara R, Cho E, Wolpin BM, Meyerhardt AJ, Meissner A, Schernhammer ES, Fuchs CS, Giovannucci E. Molecular pathological epidemiology of epigenetics: emerging integrative science to analyze environment, host, and disease. Mod Pathol 2013; 26: 465-84.
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