Molecular Diagnostics
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Innovations in Molecular Diagnostics

The Society for Women's Health Research presents an introduction to the exciting field of molecular diagnostics that is revolutionizing women's health care.
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First comprehensive atlas of human gene activity released

First comprehensive atlas of human gene activity released | Molecular Diagnostics | Scoop.it

A large international consortium of researchers has produced the first comprehensive, detailed map of the way genes work across the major cells and tissues of the human body. The findings describe the complex networks that govern gene activity, and the new information could play a crucial role in identifying the genes involved with disease.

 

“Now, for the first time, we are able to pinpoint the regions of the genome that can be active in a disease and in normal activity, whether it’s in a brain cell, the skin, in blood stem cells or in hair follicles,” said Winston Hide, associate professor of bioinformatics and computational biology at Harvard School of Public Health (HSPH) and one of the core authors of the main paper in Nature.

 

“This is a major advance that will greatly increase our ability to understand the causes of disease across the body.”

 

The research is outlined in a series of papers published March 27, 2014, two in the journal Nature and 16 in other scholarly journals. The work is the result of years of concerted effort among 250 experts from more than 20 countries as part of FANTOM 5 (Functional Annotation of the Mammalian Genome). The FANTOM project, led by the Japanese institution RIKEN, is aimed at building a complete library of human genes.

 

Researchers studied human and mouse cells using a new technology called Cap Analysis of Gene Expression (CAGE), developed at RIKEN, to discover how 95% of all human genes are switched on and off. These “switches” — called “promoters” and “enhancers” — are the regions of DNA that manage gene activity. The researchers mapped the activity of 180,000 promoters and 44,000 enhancers across a wide range of human cell types and tissues and, in most cases, found they were linked with specific cell types.

 

“We now have the ability to narrow down the genes involved in particular diseases based on the tissue cell or organ in which they work,” said Hide. “This new atlas points us to the exact locations to look for the key genetic variants that might map to a disease.”


Via Dr. Stefan Gruenwald
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Eli Levine's curator insight, March 28, 2014 7:27 PM
There it is. As it is in our genes, so too is it in our individual psyches and societies. Check it out!
Martin Daumiller's curator insight, March 29, 2014 12:27 PM

original article: http://www.nature.com/nature/journal/v507/n7493/full/nature13182.html

 

 

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Genome sequencing stumbles towards the clinic

Genome sequencing stumbles towards the clinic | Molecular Diagnostics | Scoop.it
Technology can uncover disease risks but faces technical and scientific hurdles.
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Cologuard stool-based DNA test for colon cancer demonstrates 93.3% sensitivty

Cologuard stool-based DNA test for colon cancer demonstrates 93.3% sensitivty | Molecular Diagnostics | Scoop.it

Colon cancer screening is crucial because it can prevent colon-related cancer deaths by as much as 60 percent if adults who are at least 50-years old get screened routinely. What stops many people from getting screened though is the discomfort associated with traditional screening methods.

 

The number of adults getting screened for colon cancer, however, may soon increase as the U.S Food and Drug Administration (FDA) is likely to give its approval to a less invasive stool-based DNA test for detecting colon cancer.

 

On Thursday, a panel of FDA advisers unanimously recommended the approval of Cologuard, a colon cancer screening test that analyzes DNA found in the stool. The FDA may not follow the panel's recommendation but it usually does. Cologuard was developed by Madison-based Exact Sciences which specializes in colon cancer.

"Exact Sciences Corp. (Nasdaq: EXAS) today announced that the U.S. Food and Drug Administration's (FDA) Molecular and Clinical Genetics Panel of the Medical Devices Advisory .

 

Committee determined by a unanimous vote of 10 to zero that Exact Sciences has demonstrated safety, effectiveness and a favorable risk benefit profile of Cologuard, the company's stool-based DNA (sDNA), non-invasive colorectal cancer screening test," Exact Sciences announced on its website.

 

Findings of a study published in the New England Journal of Medicine last week suggest that Cologuard is more efficient in detecting early-stage cancer than the Fecal Immunochemical Test (FIT), another non-invasive colon cancer screening test. The study, which was participated by 12,776 individuals, found that Exact Science's stool-based DNA test could detect 92.3 percent of colon cancers. Cologuard was also found to be 94 percent efficient in detecting early stage cancers.

 

Colonoscopy remains to be the most accurate way of detecting colon cancer but many avoid it because of its invasive approach of inserting a tube into the patient's anus. Cologuard will be used as a screening test if it gets FDA's approval but patients found positive of cancer will still be asked to undergo colonoscopy.


Via Dr. Stefan Gruenwald
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Cancer early detection -- genetic testing

Download from iTunes: https://itunes.apple.com/us/podcast/cancer-early-detection-genetic/id431848216?i=279543665. Breast cancer, ovarian cancer and colon can...
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