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Molecular Diagnostics

Histopathology of colonic adenocarcinoma; the glands are enlarged and filled with necrotic debris (Photo courtesy of the University of Utah).

Promising Blood Biomarkers Isolated for Colorectal Cancer

The search for blood-borne biomarkers that could be used to screen for colorectal cancer has uncovered two promising candidates that may one day lead to the development of a simple blood test.  More...
12 Nov 2014
Image: Micrograph of a muscle biopsy from a patient with amyotrophic lateral sclerosis demonstrating the typical \"grouped atrophy\" of muscle fibers that occurs with denervation (Photo courtesy of the University of Utah).

ALS Associated Gene Identified Using Innovative Strategy

An innovative exome sequencing strategy has been used to identify a gene that encodes for a specific protein and is associated with familial amyotrophic lateral sclerosis, a fatal neurological disorder also known as Lou Gehrig's Disease.   More...
11 Nov 2014
Image: The FilmArray System, a multiplex polymerase chain diagnostic platform (Photo courtesy of BioFire Diagnostics).

Enterovirus D68 Genome Sequenced

In recent months, the rare Enterovirus D68 has spread rapidly across North America and caused severe respiratory illness in young children, with some requiring hospitalization.  More...
11 Nov 2014

Blood Test for Early-Onset Alzheimer's Disease Relies on Exosomal MicroRNA Biomarkers

A team of Australian biomedical researchers has devised a blood test based on expression profiling of small non-coding RNA’s, microRNA, for the diagnosis of early-onset Alzheimer's disease.   More...
09 Nov 2014
Image: The GAIIx genome analyzer (Photo courtesy of Illumina).

Rapid Test Diagnoses Severe Sepsis

A rapid test has been developed that could help physicians predict within an hour if a patient will develop severe sepsis so they can begin treatment immediately.   More...
04 Nov 2014
Image: The cystic fibrosis transmembrane conductance regulator (CFTR) channel protein controls the flow of H2O and Cl- ions into and out of lung cells. When CFTR is working correctly (Panel 1), these ions flow in and out. However, when CFTR is malfunctioning (as in Panel 2), these ions cannot flow out of the cell due to channel blockage, leading to the buildup of thick mucus in the lungs characteristic of cystic fibrosis (Photo courtesy of Wikimedia (user Lbudd14)).

New Prenatal Cystic Fibrosis Tests Improve CFTR Screening Options

A new set of prenatal cystic fibrosis screening tests offer flexibility and comprehensiveness in screening for important CFTR gene variants.  More...
03 Nov 2014
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Clinical Exome Sequencing Genetically Identifies Rare Mendelian Disorders

Advances in next-generation sequencing technologies have decreased the cost of sequencing per base pair about 10-fold, improved accuracy, and greatly increased the speed of generating sequence data.  More...
28 Oct 2014
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