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The Journey through the Gene: a Focus on Plant Anti-pathogenic Agents Mining in the Omics Era
Published in Mahendra Rai, Chistiane M. Feitosa, Eco-Friendly Biobased Products Used in Microbial Diseases, 2022
José Ribamar Costa Ferreira-Neto, Éderson Akio Kido, Flávia Figueira Aburjaile, Manassés Daniel da Silva, Marislane Carvalho Paz de Souza, Ana Maria Benko-Iseppon
One of the most critical features in molecular genetics is the ability of DNA sequencing. At the beginning of the DNA sequencing era, the applied methodologies involved high cost/million bases and a long time/run necessary to obtain good quality sequence data. These factors became almost impossible to study large genomes. With the emergence of Second-Generation Sequencing (SGS; previously known as Next Generation Sequencing or NGS) technologies, this scenario started to be modified.
Assessment of fetal genetic disorders
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Teresa Martino, J. Pratt Rossiter, Karin J. Blakemore
Since the first clinical use of fetal sex determination by amniocentesis in 1967, there has been a virtual explosion in both the availability and the application of prenatal diagnosis in the management of pregnancy. The rapid expansion of this field has been a result of numerous advances. The quality of ultrasonography has vastly improved, allowing detection of both gross and increasingly more subtle congenital anomalies and providing accurate guidance for diagnostic procedures including amniocentesis, chorionic villus sampling (CVS), fetal blood sampling, and fetal biopsy. The safety of these invasive methods improved due to higher resolution ultra-sonography as well as progress in the development of the techniques themselves. Simultaneously, the “revolution” in molecular genetics has resulted in the identification of the genes and mutations responsible for many inherited disorders. This knowledge can, in many cases, be applied directly to prenatal diagnosis for pregnancies at risk for specific genetic diseases. All of these factors have contributed to the need for maternal–fetal medicine specialists to become experts in the field of prenatal diagnosis.
Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
The demonstration of protease-resistant PrP in brain is the neuropathologic diagnostic marker of prion disease. Specific banding patterns of the protease-resistant PrPSc (by Western blot analysis) correspond to the major prion disease subtypes of CJD, GSS, FI, and vCJD (Figure 16.34). Proteinase-resistant PrPSc can also be assessed by immunohistochemistry on brain sections, using antibodies against PrP. Molecular genetic analyses of the PRNP gene can be used to confirm a mutation. Macroscopically, the brain is atrophic. Microscopically, CJD consists of a triad of: Neuronal loss.Reactive astrocytic proliferation and gliosis.Spongiform degeneration (spongiform change): vacuolation of the neuropil, particularly in deeper laminae of the gray matter of the frontal and temporal lobes, but also the gray matter of the striatum, thalamus, tegmentum of the upper brainstem, and cerebellar cortex (Figures 16.35, 16.36).
Beyond visualization of DNA double-strand breaks after radiation exposure
Published in International Journal of Radiation Biology, 2022
I have been interested in molecular genetics since I was a high school student. When I was a 4th grade student at Hiroshima University, I joined to Dr. Komatsu’s Laboratory. My research career started with research aimed at cloning the NBS1 gene and gene mutation analysis of Fanconi anemia. At that time, cloning of the NBS1 gene was state-of-the-art research being undertaken by multiple laboratories around the world, and we were nervous about which laboratory would publish the paper first. Finally, in 1998, papers reporting the NBS1 gene cloning were published in Cell, and a paper by Komatsu Lab appeared in Nature Genetics (Carney et al. 1998; Matsuura et al. 1998; Varon et al. 1998). To achieve this competitive work, some researchers became ill and fatigued due daily sequencing experiments without rest, and others developed calluses on their fingers caused by opening and closing many 1.5 ml tubes. In particular, I remember Professor Komatsu boarding an international flight with the completed manuscript and actually carrying it personally to the editorial office of Nature Genetics in New York. Now that online posting is commonplace, it's an unimaginable event. I appreciated then that in order to be competitive in science, one must work at this pace and level. Hence, I realized that research activities need physical fitness.
British Journal of Biomedical Science in 2021. What have we learned?
Published in British Journal of Biomedical Science, 2021
As seen throughout the articles published in 2021, volume 78 of the British Journal of Biomedical Science (BJBS) the molecular techniques discussed are often applied as an investigative tool to determine the clinical relevance of genes in an organism’s genome employing genetic screens. It also emphasizes the increasingly important role this technology has across all the traditional biomedical science disciplines. This approach helps us to understand how molecular genetics can be used as a powerful methodology for linking mutations to genetic sequences, may aid the search for treatments and or possible cures for various genetic based abnormalities. Many conditions and illnesses still cause considerable misery and suffering. Better laboratory diagnostics are therefore needed to provide more accurate information and lead to improved patient care – the aim being to provide for a higher quality of life for individuals with these conditions. Moreover some of the molecules and approaches described in the journal, such as analysis of micro-RNAs and single nucleotide polymorphisms (SNPs) for a range of genes, may appear esoteric to many of us working in the laboratories, where more traditional methods hold sway. The important point here is to realize the pace of change in this area and also to recognize the importance of ‘biomarker’ studies as complementary to experimental studies on cell lines and animal based studies approach in the field, thus enabling a more synergistic approach to the study of disease mechanisms and pathological processes generally (Figure 2).
Update on molecular companion diagnostics - a future in personalized medicine beyond Sanger sequencing
Published in Expert Review of Molecular Diagnostics, 2020
While personalized medicine has gained footing within the sphere of pharmaceuticals, the world of laboratory medicine has been contemporaneously developing and incorporating molecular genetic testing into the clinical laboratory setting. Beginning with the emergence of DNA sequencing with techniques such as Sanger and Maxam-Gilbert sequencing, to the advent of the polymerase chain reaction (PCR) in the mid-1980 s, analytical advancements in molecular diagnostics have continued at an exponential rate [8,9]. In the span of five decades, DNA sequencing techniques in the clinical laboratory have progressed from short oligonucleotide sequencing to relatively rapid and automated next-generation sequencing (NGS), whole exome, and even whole genome sequencing [8,10]. As molecular diagnostics have continued to progress in complexity and capability, genetic testing has also become more accessible to the patient population. Originally confined to research laboratories and large reference laboratory settings, molecular assays for more common diseases and conditions are now being developed and offered to patients in many larger hospital clinical laboratories. It is also important to note the parallel advancement of immunohistochemical (IHC) assays and their application to protein expression analysis in tissue samples for PD-L1, HER2, and more [11,12]. Details of these analytical methods (including IHC) and their use in companion diagnostics are outside the scope of this update.