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Researchers have found a growing understanding and acceptance by pregnant women of ccfDNA testing. [© igorborodin/ Fotolia]
In October 2011, the Sequenom Center for Molecular Medicine (SCMM) became the first laboratory in the United States to offer next-generation sequencing of circulating cell-free (ccf) DNA testing for Down syndrome (trisomy 21). This commercial launch followed the publication of an external clinical validation study demonstrating that testing could identify 98.6% of fetuses with Down syndrome (209/212) with a...
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The application of genomics in cancer has led to an improved understanding of the disease. To date, 125 driver genes have been discovered—71 tumor suppressors and 54 oncogenes—that promote tumor growth through 12 cellular signaling pathways.1 These pathways have become the focus of small molecule inhibitor drugs, primarily targeting kinases. While the number of available targeted therapies is limited,...

The twelfth issue of Clinical OMICs is available now! Check it out by clicking on the link below.

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Precision cancer therapy firm Perthera is partnering with the Robert H. Lurie Comprehensive Cancer Center of Northwestern University and the Northwestern Medicine Developmental Therapeutics Institute (NMDTI) to conduct a translational research program aimed at assessing the utility of integrating next-generation sequencing, proteomic, and phospho-proteomic data in oncology developmental therapeutics and clinical practice. Under the alliance, the three organizations plan...
Total Glut4 glucose transporter (left
An exhaustive analysis of fatty acids from a diabetes-protected animal model has revealed a whole new class of molecules. These molecules, dubbed fatty acid hydroxyl fatty acids, or FAHFAs, enhance insulin sensitivity and glucose control. Better yet, they also reduce inflammation. Ordinarily, elevated fatty acids are associated with insulin resistance and glucose intolerance, which in turn are associated with diabetes...
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Roche has picked up exclusive rights to AbVitro's primer extension-based target enrichment (PETE) technology and associated patent applications AbVitro has filed. The technology, Roche says, will be used to support next-generation sequencing (NGS) directly from blood or other biological samples—something that could be a boon for clinicians. Roche plans to incorporate PETE technology into its Sequencing Unit R&D pipeline to...
As omics technologies continue to migrate toward clinical applications, a market involving prognostic and predictive biomarkers is growing rapidly. This is an important space as it represents the segregation of biomarkers into classes based on their clinical utility. Biomarkers will be fundamental to the success of targeted therapeutics in the future. The implementation of personalized medicine in oncology and beyond requires a precise...
Figure 1. Method of sequencing samples from a JAK2-negative myeloproliferative neoplasm patient
As one of the most prevalent causes of death across the globe, the burden of cancer is still sharply increasing, predominantly due to the aging population. As such, the current focus of many researchers is on how to accurately diagnose and treat various cancer types. However, human cancers usually carry several different genomic variations, such as copy number variations...
Experts have suggested that in the next decade large-scale sequencing for all healthy babies at birth is plausible. [Source: © Miroslav Beneda - Fotolia.com]
Since 1963, state public health programs have screened newborns for a number of life-altering health conditions. Many of these disorders are rare and genetic, and if caught in the first weeks of life they can be treated or managed to prevent death or a lifetime of disability. Early detection can also help families avoid the lengthy and stressful “diagnostic...
Pharmacovigilance encompasses clinical care optimization
Personalized medicine has long offered more hype than hope. But as genetic knowledge has multiplied in recent years, researchers—and more importantly, computing tools—have begun catching up with all that far-flung data, harnessing it into new databases and systems that offer the best prospects yet for delivering on the promise of precision treatments. In several papers published this year for which...
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