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Molecular Diagnostics

Image: Focal hand dystonia (Photo courtesy of Andrea Brachfeld).

New Genetic Cause Discovered for Dystonia

Dystonia is one of the commonest movement disorders and is thought to affect 70,000 people in the UK alone. It can cause a wide range of disabling symptoms, including painful muscle spasms and abnormal postures, and can affect walking and speech. More...
03 Jan 2017
Image: A histopathology of a non-small cell lung carcinoma (Photo courtesy of Librepath).

Highest Sensitivity Liquid Biopsy Test Introduced for Lung Cancer

Approximately 20% of non-small cell lung cancer (NSCLC) patients test positive for an epidermal growth factor receptor (EGFR) driver mutation and receive EGFR Tyrosine Kinase Inhibitor (TKI) therapy, but unfortunately, most will develop a resistance to this type of therapy. More...
03 Jan 2017
Image: An evaluation of RP expression specificity across human tissues, primary cells, and tumors (Photo courtesy of University of Basel\'s Biozentrum).

Ribosomal Protein Expression Specifies Normal and Malignant Human Cells

Proteins are the building blocks of life, produced by molecular machines called ribosomes. A human ribosome is composed of four ribosomal RNAs (rRNAs) and 80 ribosomal proteins (RPs), and its structure is believed to be largely invariant. More...
29 Dec 2016
Image: The miRNeasy serum-plasma kit is designed for purification of cell-free total RNA (Photo courtesy of Qiagen).

Serum MiR-122 Levels Associated with Histopathological Features of NAFLD

Non-alcoholic steatohepatitis (NASH) can only be diagnosed by the presence of histopathological components, such as steatosis, lobular inflammation, ballooning, and fibrosis and therefore there is a need for non-invasive surrogate markers of histopathological features. More...
28 Dec 2016
Image: Flowchart of evaluation protocol portraying how a cancer driver gene prediction method of interest can be evaluated. The input to the method is a provided pancan somatic mutation set. The initial output from the method to be evaluated is a list of predicted driver genes with associated P values and q values. A list of significant driver genes is produced by selecting a q value threshold. Additional details can be found in the paper (Photo courtesy of the journal Proceedings of the National Academy of Sciences).

Bioinformatics Tool for Evaluating the Evaluation of Cancer Genes

Researchers offer a new software tool being developed to help assess computational algorithms used in methods to identify mutant genes that drive cancer. The tool could thereby lead to more precise diagnostics and targeted treatments for patients. More...
28 Dec 2016
Image: Radiological response of a Gastrointestinal Stromal Tumor (GIST) possessing an ETV6–NTRK3 fusion following treatment with LOXO-101, a selective TRK inhibitor. A 55-year old male with a T3N0M1 small intestine GIST had progression of disease on five lines of tyrosine kinase inhibitors targeting KIT prior to identification of an ETV6–NTRK3 fusion in the tumor. He was enrolled on a Phase I clinical trial of oral LOXO-101 (Loxo Oncology, Stamford, CT, USA), a selective TRK inhibitor. As compared to baseline PET/CT images (a), the tumors had decreased size and FDG-uptake at week 8 (b). At 4 months, the patient had ongoing partial response (44%) according to RECIST 1.1 criteria (Photo courtesy of the Journal of Translational Medicine).

New Genetic Mutations Linked to Subset of Gastrointestinal Stromal Tumors

Researchers have identified new gene fusions and mutations associated with a subset of Gastrointestinal Stromal Tumors (GIST) patients who lack the documented tell-tale mutations, making diagnosis and treatment more difficult in these cases. More...
27 Dec 2016
Image: The CFX96 real-time PCR detection system (Photo courtesy of Bio-Rad).

Circulating Cell-Free DNA Predicts Gastric Cancer Patients Prognosis

Gastric cancer is the second most common cancer and the fourth leading cause of cancer death and the most significant prognostic indicator is TNM Classification of Malignant Tumors (TNM) staging. More...
21 Dec 2016
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.