Evolution of Genetic Techniques: Past, Present, and Beyond.

Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given

Laboratory Genetic Testing in Clinical Practice 2016.

WOS: 000392526600001PubMed ID: 2813360

Laboratory genetic testing in clinical practice 2014.

WOS: 000352434200001PubMed ID: 2587902

A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds

The Human Genetic Cell Repository sponsored by the National Institute of General Medical Sciences (NIGMS) contains more than 11,000 cell lines and DNA samples collected from numerous individuals. All of these cell lines and DNA samples are categorized into several collections representing a variety of disease states, chromosomal abnormalities, heritable diseases, distinct human populations, and apparently healthy individuals. Many of these cell lines have previously been studied with detailed conventional cytogenetic analyses, including G-banded karyotyping and fluorescence in situ hybridization. This work was conducted by investigators at submitting institutions and scientists at Coriell Institute for Medical Research, where the NIGMS Repository is hosted. Recently, approximately 900 cell lines, mostly chosen from the Chromosomal Aberrations and Heritable Diseases collections, have been further characterized in detail at the Coriell Institute using the Affymetrix Genome-Wide Human SNP Array 6.0 to detect copy number variations and copy number neutral loss of heterozygosity. A database containing detailed cytogenetic and genomic information for these cell lines has been constructed and is freely available through several sources, such as the NIGMS Repository website and the University of California at Santa Cruz Genome Browser. As additional cell lines are analyzed and subsequently added into it, the database will be maintained dynamically

New Aspects of the Epigenetics of Pancreatic Carcinogenesis.

Pancreatic cancer remains among the deadliest forms of cancer with a 5 year survival rate less than 10%. With increasing numbers being observed, there is an urgent need to elucidate the pathogenesis of pancreatic cancer. While both contribute to disease progression, neither genetic nor environmental factors completely explain susceptibility or pathogenesis. Defining the links between genetic and environmental events represents an opportunity to understand the pathogenesis of pancreatic cancer. Epigenetics, the study of mitotically heritable changes in genome function without a change in nucleotide sequence, is an emerging field of research in pancreatic cancer. The main epigenetic mechanisms include DNA methylation, histone modifications and RNA interference, all of which are altered by changes to the environment. Epigenetic mechanisms are being investigated to clarify the underlying pathogenesis of pancreatic cancer including an increasing number of studies examining the role as possible diagnostic and prognostic biomarkers. These mechanisms also provide targets for promising new therapeutic approaches for this devastating malignancy

The management of iron deficiency in inflammatory bowel disease

__Background__ Iron deficiency is a common and undertreated problem in inflammatory bowel disease (IBD). __Aim__ To develop an online tool to support treatment choice at the patient-specific level. __Methods__ Using the RAND/UCLA Appropriateness Method (RUAM), a European expert panel assessed the appropriateness of treatment regimens for a variety of clinical scenarios in patients with non-anaemic iron deficiency (NAID) and iron deficiency anaemia (IDA). Treatment options included adjustment of IBD medication only, oral iron supplementation, high-/low-dose intravenous (IV) regimens, IV iron plus erythropoietin-stimulating agent (ESA), and blood transfusion. The panel process consisted of two individual rating rounds and three plenary discussion meetings. __Results__ The panel reached agreement on 71% of treatment indications. 'No treatment' was never considered appropriate, and repeat treatment after previous failure was generally discouraged. For 98% of scenarios, at least one treatment was appropriate. Adjustment of IBD medication was deemed appropriate in all patients with active disease. Use of oral iron was mainly considered an option in NAID and mildly anaemic patients without disease activity. IV regimens were often judged appropriate, with high-dose IV iron being the preferred option in 77% of IDA scenarios. Blood transfusion and IV+ESA were indicated in exceptional cases only. __Conclusions__ The RUAM revealed high agreement amongst experts on the management of iron deficiency in patients with IBD. High-dose IV iron was more often considered appropriate than other options. To facilitate dissemination of the recommendations, panel outcomes were embedded in an online tool, accessible via http://ferroscope.com/

Management of iron-deficiency anemia following acute gastrointestinal hemorrhage: A narrative analysis and review

Many patients experiencing acute gastrointestinal bleeding (GIB) require iron supplemen-tation to treat subsequent iron deficiency (ID) or iron-deficiency anemia (IDA). Guidelinesregarding management of these patients are lacking. We aimed to identify areas of unmetneed in patients with ID/IDA following acute GIB in terms of patient management andphysician guidance. We formed an international working group of gastroenterologists toconduct a narrative review based on PubMed and EMBASE database searches (fromJanuary 2000 to February 2021), integrated with observations from our own clinical expe-rience. Published data on this subject are limited and disparate, and those relating topost-discharge outcomes, such as persistent anemia and re-hospitalization, are particularlylacking. Often, there is no post-discharge follow-up of these patients by a gastroenterolo-gist. Acute GIB-related ID/IDA, however, is a prevalent condition both at the time of hos-pital admission and at hospital discharge and is likely underdiagnosed and undertreated.Despite limited data, there appears to be notable variation in the prescribing of intravenous(IV)/oral iron regimens. There is also some evidence suggesting that, compared with oraliron, IV iron may restore iron levels faster following acute GIB, have a better tolerabilityprofile, and be more beneficial in terms of quality of life. Gaps in patient care exist inthe management of acute GIB-related ID/IDA, yet further data from largepopulation-based studies are needed to confirm this. We advocate the formulation ofevidence-based guidance on the use of iron therapies in these patients, aiding a more stan-dardized best-practice approach to patient care

Exploring the Potential of Laser Capture Microdissection Technology in Integrated Oral BioSciences

Laser capture microdissection (LCM) is a high end research and diagnostic technology that helps in obtaining pure cell populations for the purpose of cell or lesion specific genomic and proteomic analysis. Literature search on the application of LCM in oral tissues was made through PUBMED. There is ample evidence to substantiate the utility of LCM in understanding the underlying molecular mechanism involving an array of oral physiological and pathological processes, including odontogenesis, taste perception, eruptive tooth movement, oral microbes, and cancers of the mouth and jaw tumors. This review is aimed at exploring the potential application of LCM in oral tissues as a high-throughput tool for integrated oral sciences. The indispensable application of LCM in the construction of lesion specific genomic libraries with emphasis on some of the novel molecular markers thus discovered is also highlighted. This article is protected by copyright. All rights reserved