Gene Sequencing News and Research

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First ever analysis of genetic variation between different regions of same tumour

Taking a sample from just one part of a tumour may not give a full picture of its 'genetic landscape', according to a landmark study published in the New England Journal of Medicine.

8 Mar 2012

WUSTL scientists to decode DNA of 99 patients with rare diseases

Rare genetic diseases, long overlooked because they affect relatively few people, are getting new attention. Scientists at Washington University School of Medicine in St. Louis are reaching out to patient advocacy groups and offering to decode the DNA of 99 patients with rare diseases to help find the genetic alterations responsible for their illnesses.

3 Mar 2012

Pyromaker can rapidly sequence cancer-driving mutations

Using precise information about an individual's genetic makeup is becoming increasingly routine for developing tailored treatments for breast, lung, colon and other cancers. But techniques used to identify meaningful gene mutations depend on analyzing sequences of both normal and mutant DNA in tumor samples, a process that can yield ambiguous results. Now, a team of Johns Hopkins researchers says it has developed an easy-to-use online computer software application that can clear up any confusion faster and cheaper than other methods currently used to do the job.

16 Feb 2012

Gene sequencing could identify genetic variants of lung cancer and colorectal cancer

Foundation Medicine Inc., a molecular information company that brings comprehensive cancer gene analysis to routine clinical care, and Dana-Farber Cancer Institute have come up with the results from their collaborative next-generation sequencing (NGS) study to assay cancer-relevant genes in 24 non-small cell lung cancer (NSCLC) and 40 colorectal cancer (CRC) cases.

14 Feb 2012

Life Technologies takes orders for new benchtop Ion Proton Sequencer

Life Technologies Corporation today announced it is taking orders for the new benchtop Ion Proton Sequencer that is designed to sequence the entire human genome in a day for $1,000.

10 Jan 2012

Scientists identify genetic alteration behind anophthalmia

Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes - a condition called anophthalmia.

13 Dec 2011

Federal officials push greater medical use of gene sequencing

Almost a year after researchers in Wisconsin published a groundbreaking paper describing their use of genetic sequencing to diagnose and treat a 4-year-old boy, a national health agency is shifting its focus to put $416 million into making the secrets of our genetic script part of standard medical practice.

8 Dec 2011

Researchers sequence entire transcriptome of mouse neural retina

The population of Eric Morrow's seminar "Neurogenetics and Disease" comprises mainly undergraduates who were skipping down the halls of their elementary schools when the first drafts of human genome sequences were published. When Morrow, assistant professor of biology, recently asked the class how to find the mutation behind a disease, a hand shot up in the back of the class to signal the answer: "Sequence the patient's genome."

8 Dec 2011

Ambry Genetics deploys EMC Isilon scale-out NAS for gene sequencing

EMC Corporation today announced that Ambry Genetics, a leading commercial provider of clinical diagnostic and genomic services, has deployed EMC Isilon scale-out NAS to power its advanced gene sequencing operations, enabling Ambry to advance a range of scientific pursuits while easily managing 100 percent data growth annually.

30 Nov 2011

GPS at WUSTL now offers new cancer genetic test

Physicians can now take advantage of a new genetics test -- one of the first of its kind to be offered in the United States -- that can help determine the best treatment for cancer patients.

23 Nov 2011

Two genetic rearrangements may trigger 5 to 7% of breast cancers

Researchers at the University of Michigan Comprehensive Cancer Center have discovered two cancer-spurring gene rearrangements that may trigger 5 to 7 percent of all breast cancers.

20 Nov 2011

Cancer Research UK embarks on new initiative to unravel genetic secrets behind cancers

Unravelling the genetic secrets behind a range of cancers - from understanding how certain genes control cancer to determining how the disease evades treatment - is the aim of a new initiative from Cancer Research UK.

18 Nov 2011

HRM curve analysis identifies patients at risk of MH

A new DNA test may make it much simpler to identify patients at risk of malignant hyperthermia (MH)—a rare but life-threatening complication of exposure to common anesthetics reports the November issue of Anesthesia & Analgesia, official journal of the International Anesthesia Research Society.

2 Nov 2011

Scientists discover a way to accurately map typhoid outbreaks in the city

In the mid-nineteenth century, John Snow mapped cases of cholera in Soho, London, and traced the source of the outbreak to a contaminated water pump. Now, in a twenty-first century equivalent, scientists funded by the Wellcome Trust working in Kathmandu, Nepal, have combined the latest in gene sequencing technology and global positioning system (GPS) case localisation to map the spread of typhoid and trace its source.

18 Oct 2011

Three Johns Hopkins scientists receive NIH Director's New Innovator Awards

A pioneer in the field of epigenetics who has been spearheading the use of genome-wide technology for epigenetics research, a researcher who has revealed a weakness in the tuberculosis bacterium that makes it more susceptible to antibiotics, and a scientist who seeks to revolutionize new methods for toxicological testing to improve human health and reduce animal testing have received Director's Awards from the National Institutes of Health.

22 Sep 2011

Discovery in rare disease may shed light on common causes of blindness

In a rare eye disease, the retina degenerates because light-receiving cells fail to regenerate, research led by a student at Case Western Reserve University School of Medicine shows.

2 Sep 2011

Hospital acquired Clostridium difficile bug defense system identified

American researchers have discovered the process by which the cells in the gut fight off toxins produced by a hospital bug - Clostridium difficile. Writing in Nature Medicine, they showed how a chemical - GSNO - deactivated a toxin from Clostridium difficile which causes inflammation and diarrhea. They hope to use their findings to develop a treatment for C. difficile.

23 Aug 2011

New CDI therapeutic approach may offer treatment for other bacterial diseases

Researchers at the David Geffen School of Medicine at UCLA and the University of Texas Medical Branch at Galveston have discovered a molecular process by which the body can defend against the effects of Clostridium difficile infection (CDI), pointing the way to a promising new approach for treating an intestinal disease that has become more common, more severe and harder to cure in recent years.

22 Aug 2011

SIGMAR1 gene mutation associated with development of juvenile ALS

Researchers from the Kingdom of Saudi Arabia have identified a mutation on the SIGMAR1 gene associated with the development of juvenile amyotrophic lateral sclerosis.

12 Aug 2011

Safeguard Scientifics reports consolidated net income of $121.8M for second quarter 2011

Safeguard Scientifics, Inc., a holding company that builds value in growth-stage life sciences and technology companies, today announced results of operations for the second quarter of 2011.

27 Jul 2011