Genomic News and Research

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Alliance of Medicare providers urge link between payment changes, quality

The Premier healthcare alliance is urging that, if scheduled 2 percent cuts take effect, they not apply to hospitals that have already reduced costs.

15 Nov 2012

Whole genome sequencing could become prenatal standard of care

Whole genome sequencing of the DNA code of prenatal samples accurately and quickly identifies the location of chromosomal abnormalities, and could become a prenatal standard of care, researchers propose.

9 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Washington University, SRI investigators launch Global Metabolomic Initiative

Investigators at Washington University and The Scripps Research Institute have announced the launch of a "Global Metabolomic Initiative" to facilitate meta-analyses on studies of the metabolism of bacteria, yeast, plants, animals and people.

7 Nov 2012

WU researchers to study blood-clotting disorders

Researchers at Washington University School of Medicine in St. Louis have received a $9 million grant to investigate blood-clotting disorders. From heart attacks and strokes to uncontrolled bleeding, clotting disorders cause more deaths each year in the United States than all types of cancer combined.

7 Nov 2012

Ion AmpliSeq Community Panels from Life Technologies

Life Technologies Corporation today announced Ion AmpliSeq Community Panels, a community-driven solution to gene panel sequencing that leverages the expertise of scientific thought leaders and the Ion Community to create gene panels for conditions ranging from cancer to inherited diseases.

7 Nov 2012

UCLA study to uncover risk profiles of breast cancer survivors likely to suffer from depression

UCLA researchers received a five-year, $5 million grant from the National Cancer Institute that will fund a study seeking to uncover risk profiles of breast cancer survivors likely to suffer from depression.

7 Nov 2012

John Wiley & Sons launches Molecular Genetics & Genomic Medicine

John Wiley & Sons, Inc., today announced the launch of Molecular Genetics & Genomic Medicine (MGGM), a new Wiley Open Access journal. Under the leadership of Editor-in-Chief Dr. Maximilian Muenke, the journal will provide rapid dissemination of high-quality research in all areas of human, medical and molecular genetics.

6 Nov 2012

Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Affymetrix reports net loss of $17.9 million for third quarter 2012

Affymetrix, Inc., today reported its operating results for the third quarter of 2012. Total revenue for the quarter was $79.6 million, including approximately $17.6 million in revenue from eBioscience during the third quarter of 2012. This compares to total revenue of $64.0 million for the same period of 2011.

5 Nov 2012

Scientists encourage genetic data sharing

Incomplete access to private databases containing vital genetic information may hinder the development of personalized medicine, say researchers.

5 Nov 2012

New tool can particularly sort tumor-causing cancer cells

A new tool developed by scientists at The Methodist Hospital separates tumor-causing cancer cells from more benign cells by subjecting the cells to a microscopic game of Plinko -- except only the squishiest cells make it through.

3 Nov 2012

New partnership to make advancements in personalized breast cancer treatment and care

The Edith Sanford Breast Cancer Foundation and The Scripps Research Institute today announced the formation of a dynamic partnership that will lay the groundwork for lifesaving advancements in personalized breast cancer treatment and care.

3 Nov 2012

Scientists sequence and analyze human genomes to discover many variants

Thanks to powerful computational tools developed at Simon Fraser University, more than 100 scientists from around the world have genetically mapped the largest and most varied number of human genomes to date.

3 Nov 2012

Studies show standardizing computer programs help improve genetic testing for Lynch Syndrome

Many patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance."

3 Nov 2012

Researcher identifies 71 genetic regions newly associated with inflammatory bowel disease

In one of the largest studies of its kind ever conducted, an international team of scientists has thrown new light on the genetic basis of the inflammatory bowel diseases (IBD).

3 Nov 2012

Researchers identify genes linked to serous endometrial cancer

Researchers have identified several genes that are linked to one of the most lethal forms of uterine cancer, serous endometrial cancer.

29 Oct 2012

Ancestry could simplify searches for harmful mutations

Explosive advancement in human genome sequencing opens new possibilities for identifying the genetic roots of certain diseases and finding cures. However, so many variations among individual genomes exist that identifying mutations responsible for a specific disease has in many cases proven an insurmountable challenge.

26 Oct 2012

Kaiser Permanente Research Affiliates receives prestigious designation from AHRQ

A new research collaboration led by Kaiser Permanente has received a prestigious designation from the federal Agency for Healthcare Research and Quality to serve of as one of the nation's 11 Evidence-based Practice Centers.

20 Oct 2012

AMP report provides overview of next generation sequencing technology

The Association for Molecular Pathology published the report of the Whole Genome Analysis Working Group of the AMP Clinical Practice Committee in the November 2012 issue of The Journal of Molecular Diagnostics.

20 Oct 2012