Genomic News and Research

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GenomeQuest's genomic decision support system achieves HIPAA compliance

GenomeQuest Inc., a global provider of large-scale genomic software applications, today announced that its GQ-Dx genomic decision support system for the production of clinical-grade diagnostic reports from next-generation sequencing (NGS) runs now meets Health Insurance Portability and Accountability Act (HIPAA) security and privacy standards.

30 Jul 2012

Elsevier introduces Applied and Translational Genomics journal

Elsevier, a world-leading provider of scientific, technical and medical information products and services, announces the launch of Applied and Translational Genomics, an open access journal.

30 Jul 2012

Fruit flies help pinpoint genetic changes that spell cancer

By studying fruit flies, scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have successfully devised a fast and cost-saving way to uncover genetic changes that have a higher potential to cause cancer. With this new approach, researchers will now be able to rapidly distinguish the range of genetic changes that are causally linked to cancer (i.e. "driver" mutations) versus those with limited impact on cancer progression.

30 Jul 2012

PedBrain Tumor network publishes evaluation of first 125 genome analyses of medulloblastomas

Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer from the stressful treatment which can be harmful to the developing brain. The most common childhood brain tumors are medulloblastoma and pylocytic astrocytoma.

27 Jul 2012

Fusion of FGFR and TACC gene leads to glioblastoma

Researchers at Columbia University Medical Center (CUMC) have discovered that some cases of glioblastoma, the most common and aggressive form of primary brain cancer, are caused by the fusion of two adjacent genes.

26 Jul 2012

Novel genomic sequencing method can help conduct in-depth analysis of single cells

Only by viewing a Georges Seurat painting at close range can you appreciate the hidden complexities of pointillism - small, distinct dots of color applied to form an image from a distance. Similarly, biologists and geneticists have long sought to analyze profiles of genes at the single cell level but technology limitations have only allowed a view from afar.

23 Jul 2012

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

Researchers identify several gene mutations responsible for medulloblastoma

Researchers at the Stanford University School of Medicine and Lucile Packard Children's Hospital have identified several gene mutations responsible for the most common childhood brain tumor, called medulloblastoma, adding evidence to the theory that the diagnosis is a group of genetically distinct cancers with different prognoses. These and accompanying findings are likely to lead to less-toxic, better-targeted treatment approaches over the next two years, the researchers said.

23 Jul 2012

Researchers link specific gene mutations with four recognized subtypes of medulloblastoma

Researchers at Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) and several collaborating institutions have linked mutations in specific genes to each of the four recognized subtypes of medulloblastoma, the most common malignant brain tumor of children. The discovery, reported July in the journal Nature, provides doctors with potential biomarkers for guiding and individualizing treatment and reveals prospective therapeutic opportunities for countering this devastating malignancy.

23 Jul 2012

Scientists develop simple assay to diagnose 'superparasites'

Belgian scientists of the Institute of Tropical Medicine (ITM) in Antwerp, Belgium made a breakthrough in bridging high tech molecular biology research on microbial pathogens and the needs of the poorest of the poor. After sequencing the complete genome of Leishmania donovani (a parasite causing one of the most important tropical diseases after malaria) in hundreds of clinical isolates, they identified a series of mutations specific of 'superparasites' and developed a simple assay that should allow tracking them anywhere.

20 Jul 2012

Researchers identify six genes with driving mutations in melanoma

It's been a burning question in melanoma research: Tumor cells are full of ultraviolet (UV)-induced genetic damage caused by sunlight exposure, but which mutations drive this cancer? None have been conclusively tied to melanoma. The sheer abundance of these passenger mutations has obscured the search for genetic driver mutations that actually matter in melanoma development and progression.

20 Jul 2012

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

A book containing misprints may cause annoyance for the reader, but typos in an individual's genetic blueprint (DNA) can mean serious disease or even death. The search for genetic correlates for the wide range of diseases plaguing humankind has inspired a wealth of research falling under the heading of genome-wide association studies (GWAS).

19 Jul 2012

New research sheds light on pluripotency

New research at the Hebrew University of Jerusalem sheds light on pluripotency-the ability of embryonic stem cells to renew themselves indefinitely and to differentiate into all types of mature cells.

19 Jul 2012

HCV infections can lead to increased mortality from liver disease or variety of other causes

In a long-term study of people infected with the hepatitis C virus (HCV), researchers found increased deaths from both liver-related and non-liver related diseases in patients with active infections who had not cleared their infection.

19 Jul 2012

Illumina launches new kits for targeted resequencing studies

Illumina, Inc. today introduced Nextera Exome and Custom Enrichment kits, the Company's latest targeted resequencing solutions offering sample preparation and enrichment in a single, integrated workflow.

From Illumina, Inc. 17 Jul 2012

Researchers identify cannabinoid-making pathway

U of S researchers have discovered the chemical pathway that Cannabis sativa uses to create bioactive compounds called cannabinoids, paving the way for the development of marijuana varieties to produce pharmaceuticals or cannabinoid-free industrial hemp.

17 Jul 2012

Life Technologies acquires Navigenics

Life Technologies Corporation today announced the acquisition of Navigenics, Inc. This acquisition represents Life Technologies' first step in executing against a strategy to build out its molecular diagnostics business through internal development, partnerships and select acquisitions.

17 Jul 2012

UC Davis, CDC, Agilent and FDA partner to develop public database of foodborne pathogen genomes

The U.S. Food and Drug Administration (FDA), the University of California, Davis, Agilent Technologies Inc., and the Centers for Disease Control and Prevention (CDC) announced today a collaboration to create a public database of 100,000 foodborne pathogen genomes to help speed identification of bacteria responsible for foodborne outbreaks.

12 Jul 2012

PGC-1alpha and TFEB provide two new therapeutic targets for Huntington's disease

In a paper published in the July 11 online issue of Science Translational Medicine, researchers at the University of California, San Diego School of Medicine have identified two key regulatory proteins critical to clearing away misfolded proteins that accumulate and cause the progressive, deadly neurodegeneration of Huntington's disease.

12 Jul 2012

BGI, BioMed Central launch GigaScience journal

BGI, the world's largest genome sequencing institute, and their publishing partner BioMed Central, a leader in scientific data sharing, announce the launch of a new journal, GigaScience, which publishes large-scale biological research in a unique format.

12 Jul 2012