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Molecular Diagnostics

Image: New imaging technology based on fluorescent chemical probes enables visualization of what cells eat, which could aid the diagnosis and treatment of diseases such as cancer (Photo courtesy of the University of Edinburgh).

Fluorescent Markers May Aid Cancer Diagnostics by Tracking Metabolites

A novel class of fluorescent markers allows real‐time tracking of essential metabolites in live cells in culture and in vivo in order to trace the acquisition of metabolic profiles from human cancer cells of variable origin. More...
15 Apr 2019
Image: Pancreatic cancer cells (blue) growing as a sphere encased in membranes (red) (Photo courtesy of the U.S. National Cancer Institute).

Nuclear Hormone Expression Predicts Cancer Aggressiveness

A large-scale retrospective analysis in patients revealed that expression of the nuclear hormone receptor "retinoic-acid-receptor-related orphan receptor gamma" (RORgamma) could predict pancreatic cancer aggressiveness, since it correlated positively with advanced disease and metastasis. More...
15 Apr 2019
Image: The HiSeq 2500 sequencing system offers unprecedented output (Photo courtesy of the University of Delaware).

Fusion Genes Diagnosis Uses Targeted RNA Sequencing

Chromosomal rearrangements that juxtapose two different genes together can form a fusion gene. Fusion genes play a causal role in tumorigenesis, accounting for ~20% of human cancer morbidity. However, the prevalence of fusion genes varies widely across different cancers, and many fusion genes are specific to certain cancer sub-types. More...
10 Apr 2019
Image: Droplet digital PCR measures tumor load by non-invasive means. The technique takes advantage of the cell-free DNA circulating in blood, which is found in higher concentration in cancer patients (Photo courtesy of Christof Winter, MD, PhD).

Liquid Biopsy Potential Tested with ddPCR Technology

Droplet digital polymerase chain reaction (ddPCR) technology has been used to investigate the benefits of tracking drug-resistance mutations in the circulating DNA (ctDNA) of patients with hormone receptor-positive (HR+) metastatic breast cancer. More...
10 Apr 2019
Image: A photomicrograph of a pleural fluid cytopathology specimen showing mesothelioma (Photo courtesy of Nephron).

Malignant Pleural Mesothelioma Personalized by ctDNA Profiling

Malignant pleural mesothelioma (MPM) is an aggressive tumor associated with exposure to asbestos and is rising in incidence worldwide. More...
09 Apr 2019
Image: The UltraClean PCR cleanup kit (Photo courtesy of MO BIO Laboratories).

Fecal Microbes Used to Diagnose Liver Cirrhosis

Nonalcoholic fatty liver disease (NAFLD) is the most prevalent cause of chronic liver disease worldwide, and yet remains largely underdiagnosed even in individuals with advanced stage of the disease. More...
09 Apr 2019

Genomic Analysis Used to Diagnose Neurodevelopmental and Congenital Anomalies

A recent paper described the use of genomic DNA methylation analysis to facilitate the molecular diagnosis of unresolved clinical cases of neurodevelopmental and congenital anomalies (ND/CAs) and highlighted the potential value of epigenomic testing in the routine clinical assessment of these disorders. More...
08 Apr 2019
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