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Molecular Diagnostics

Image: An illustration of the novel method for transporting biospecimens, which eliminates the current method using cold-chain transport (Photo courtesy of Washington University).

Novel Method Introduced for Dry Storage of Biological Samples

A novel method for preserving biological samples collected for diagnostic testing at room temperature may one day eliminate the need for refrigeration, which is often not available in third-world settings. More...
12 Mar 2018
Image: The microfluidic control instrument performing a Drop-seq run (Photo courtesy of the New York Genome Center).

Microfluidic Device Brings Single-Cell Technology to Bedside

The complex architecture and associated higher-order function of human tissues relies on functionally and molecularly diverse cell populations. Defining the cellular subsets found in pathologic tissues provides insights into disease etiology and treatment options. More...
06 Mar 2018
Image: A micrograph showing hypertrophic decidual vasculopathy, a finding seen in gestational hypertension and preeclampsia (Photo courtesy of Wikimedia Commons).

Genomic Findings May Lead to Blood Test for Preeclampsia

A genomics-based study revealed a panel of microRNAs that may eventually be used to diagnose preeclampsia, a dangerous complication occurring during pregnancy. More...
05 Mar 2018
Image: A Manhattan plot of the study results show taller peaks that denote genetic loci most significantly associated with pancreatic cancer risk (Photo courtesy of Dr. Alison Klein, Johns Hopkins University).

Large Genomic Study Identifies New Pancreatic Cancer Risk Loci

A large genome-wide association study (GWAS) identified five new susceptibility loci for pancreatic cancer. More...
05 Mar 2018
Image: The Oncotype-Dx 21-gene recurrence score for predicting risk for metastatic breast cancer has been quickly adopted in clinical practice, but which is currently going through consultation (Photo courtesy of Genomic Health).

Multigene Breast Cancer Recurrence Signatures Tests Compared

A comparison of commercially available multigene breast cancer recurrence signatures suggests that some tests may be better than others at assessing which patients are at risk for late distant recurrence, which could be impacting oncologists' ability to guide appropriate treatment decisions for patients. More...
03 Mar 2018
Image: A diagram of colon cancer and a colon polyp; not all polyps are cancerous, but nearly all colorectal cancers begin as a polyp (Photo courtesy of Jefferson Health).

Colorectal Cancer Clues Provided by Polyp Profiles

Colorectal cancer (CRC) develops through progressive accumulation of alterations beginning with abnormal growth of the colon epithelium, which over time can transform to an adenomatous polyp and then cancer. More...
02 Mar 2018
Image: Diagrams for X-linked inheritance when cancer status is specific to women (all carrier men are effectively disease censored). Two family patterns with a pair of first-degree affected women are the maternal grandmother (MGM) family and the paternal grandmother (PGM) family (Photo courtesy of Roswell Park Cancer Institute).

Ovarian Cancer Risk May Be Paternally Inherited

A history of ovarian cancer among first-order relatives remains the strongest and best-characterized predictor of ovarian cancer risk and a main determinant of genetic testing referral. More...
01 Mar 2018
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