Evaluation of Factors that Affect the Performance of COVID-19 Molecular Assays Including Presence of Symptoms, Number of Detected Genes and RNA Extraction Type
ConclusionsTaken together, most assays had overall good performance. Since several factors affect the performance of kits, each laboratory must be familiar with its kit ’s limitations in order to produce the most reliable results. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 24, 2022 Category: Molecular Biology Source Type: research
Salivary Biomarkers as Indicators of TBI Diagnosis and Prognosis: A Systematic Review
ConclusionsStudies reported changes in salivary biomarkers after traumatic brain injuries and indicated a possible link between salivary biomarker expression and traumatic brain injury severity. However, it is unclear the degree to which salivary biomarkers accurately predict traumatic brain injury diagnosis and prognosis; some studies reported significant associations while others reported weaker associations. More research into the robustness of salivary biomarkers is needed to fully elucidate their utility for the traumatic brain injury population. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 20, 2022 Category: Molecular Biology Source Type: research
Reduction of Off-Target Effects of Gapmer Antisense Oligonucleotides by Oligonucleotide Extension
DiscussionOur data indicated that change in gene expression in the cells treated with 18-mer ASOs was significantly smaller than those with a 14-mer ASO, showing the decrease of off-target effects by oligonucleotide extension. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 7, 2022 Category: Molecular Biology Source Type: research
Evaluation of the Suitability of RNAscope as a Technique to Measure Gene Expression in Clinical Diagnostics: A Systematic Review
DiscussionThis is the first systematic review to be conducted on the use of RNAscope in the clinical diagnostic field. RNAscope was found to be a reliable and robust method that could complement gold standard techniques currently used in clinical diagnostics to measure gene expression levels or for gene detection. However, there were not enough data to suggest that RNAscope could stand alone in the clinical diagnostic setting, indicating further prospective studies to validate diagnostic accuracy values, in keeping with relevant regulations, followed by cost evaluation are required. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 26, 2021 Category: Molecular Biology Source Type: research
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach
ConclusionsWe provide evidence that the HER2 status may be reliably determined by whole genome sequencing and is applicable across different laboratory protocols and pipelines. We suggest using the ploidy-corrected copy number for diagnostic purposes. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 21, 2021 Category: Molecular Biology Source Type: research
Targeting Mutated KRAS Genes to Treat Solid Tumours
AbstractKirsten rat sarcoma (KRAS) is one of the most frequently mutated oncogenes in solid tumours. It encodes an important signalling pathway that drives cellular proliferation and growth. It is frequently mutated in aggressive advanced solid tumours, particularly colorectal, lung and pancreatic cancer. Since the first mutated KRAS was discovered in the 1980s, decades of research to develop targeted inhibitors of mutant KRAS have fallen short of the task, until recently. Multiple agents are now in clinical trials, including specific mutant KRAS inhibitors, pan-KRAS inhibitors, therapeutic vaccines and other targeted inhi...
Source: Molecular Diagnosis and Therapy - December 16, 2021 Category: Molecular Biology Source Type: research
Molecular Genetic Techniques in Biomarker Analysis Relevant for Drugs Centrally Approved in Europe
AbstractOn the basis of scientific evidence, information on the option, recommendation or requirement to test for pharmacogenetic or pharmacogenomic biomarkers is incorporated in the Summary of Product Characteristics of an increasing number of drugs in Europe. A screening of the Genetic Testing Registry (GTR) showed that a variety of molecular genetic testing methods is currently offered worldwide in testing services with regard to according drugs and biomarkers. Thereby, among the methodology indicated in the screened GTR category ‘Molecular Genetics’, next-generation sequencing is applied for identification of the l...
Source: Molecular Diagnosis and Therapy - December 14, 2021 Category: Molecular Biology Source Type: research
Achromatopsia: Genetics and Gene Therapy
AbstractAchromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. ACHM is caused by pathogenic variants in one of six cone photoreceptor-expressed genes. These mutations result in a functional loss and a slow progressive degeneration of cone photoreceptors. The loss of cone photoreceptor function manifests at birth or early in childhood and results in decreased visual acuity, lack of color discrimination, abnormal intolerance to light (ph...
Source: Molecular Diagnosis and Therapy - December 3, 2021 Category: Molecular Biology Source Type: research
Neurofilament Light Chain as a Biomarker in Cerebral Small-Vessel Disease
AbstractNeurofilament light chain is part of the neuroaxonal cytoskeleton and upon disease-related neuroaxonal damage, it is released to the extracellular space and, based on modern highly sensitive assays, can also be detected in the peripheral blood. Thus, neurofilament light chain in the blood is an emerging marker of neurological disease, including age-related conditions, such as neurodegenerative but also neurovascular diseases. Recently, blood neurofilament light chain has been shown to serve as a potentially interesting marker of disease burden and prognostication also in cerebral s mall-vessel disease, a conditio...
Source: Molecular Diagnosis and Therapy - November 25, 2021 Category: Molecular Biology Source Type: research
Economic Evaluation of Monoclonal Antibodies in Metastatic Colorectal Cancer: A Systematic Review
ConclusionsBevacizumab in combination with chemotherapy is cost-effective as neither first-line treatment nor maintenance treatment. Sequential treatment with bevacizumab in first-line and second-line treatment was also not cost-effective. Testing for KRAS and extendedRAS mutations is cost-effective and should be performed prior to anti-EGFR treatment. In theRAS wild-type subgroup of mCRCs the use of anti-EGFR (panitumumab or cetuximab) in first-line treatment leads to a more favorable cost-effectiveness profile than the corresponding anti-VEGF (bevacizumab). Cetuximab is not cost-effective as a first-line treatment. Anti-...
Source: Molecular Diagnosis and Therapy - November 24, 2021 Category: Molecular Biology Source Type: research
Worldwide Prevalence of Epidermal Growth Factor Receptor Mutations in Non-Small Cell Lung Cancer: A Meta-Analysis
ConclusionsAlthoughEGFR mutation prevalence was higher in Asian than Western countries, data support worldwide testing forEGFRoverall and submutations to inform appropriate targeted treatment decisions. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 23, 2021 Category: Molecular Biology Source Type: research
Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review
AbstractIn the era of personalized medicine and targeted therapies for the management of patients with cancer, ultrasensitive detection methods for tumor genotyping, such as next-generation sequencing or droplet digital polymerase chain reaction (ddPCR), play a significant role. In the search for less invasive strategies for diagnosis, prognosis and disease monitoring, the number of publications regarding liquid biopsy approaches using ddPCR has increased substantially in recent years. There is a long list of malignancies in which ddPCR provides a reliable and accurate tool for detection of nucleic acid-based markers deriv...
Source: Molecular Diagnosis and Therapy - November 13, 2021 Category: Molecular Biology Source Type: research
Commercial ctDNA Assays for Minimal Residual Disease Detection of Solid Tumors
AbstractThe detection of circulating tumor DNA via liquid biopsy has become an important diagnostic test for patients with cancer. While certain commercial liquid biopsy platforms designed to detect circulating tumor DNA have been approved to guide clinical decisions in advanced solid tumors, the clinical utility of these assays for detecting minimal residual disease after curative-intent treatment of nonmetastatic disease is currently limited. Predicting disease response and relapse has considerable potential for increasing the effective implementation of neoadjuvant and adjuvant therapies. As a result, many companies are...
Source: Molecular Diagnosis and Therapy - November 1, 2021 Category: Molecular Biology Source Type: research
Acknowledgement to Referees
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 19, 2021 Category: Molecular Biology Source Type: research
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
AbstractChoroideremia is an inherited retinal disease characterised by a degeneration of the light-sensing photoreceptors, supporting retinal pigment epithelium and underlying choroid. Patients present with the same symptoms as those with classic rod-cone dystrophy: (1) night blindness early in life; (2) progressive peripheral visual field loss, and (3) central vision decline with a slow progression to legal blindness. Choroideremia is monogenic and caused by mutations inCHM. Eight clinical trials (three phase 1/2, four phase 2, and one phase 3) have started (four of which are already finished) to evaluate the therapeutic ...
Source: Molecular Diagnosis and Therapy - October 18, 2021 Category: Molecular Biology Source Type: research
