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Researchers discover gene mutations in patients with alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis.

30 Jul 2012

Potential biomarker to predict lung cancer patients' response to chemotherapy

Patients with the most common type of lung cancer are notoriously insensitive to chemotherapy drugs, including cisplatin. New findings related to the cellular pathways that regulate responses to cisplatin have now been published by Cell Press on July 26th in the journal Cell Reports.

27 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

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

Study identifies genetic markers that influence protein involved in regulating oestrogen, testosterone levels

A research study led by the Peninsula College of Medicine and Dentistry, University of Exeter, and Boston University School of Medicine, in collaboration with a global consortium, has identified genetic markers that influence a protein involved in regulating oestrogen and testosterone levels in the bloodstream.

21 Jul 2012

Study identifies genetic markers that influence sex hormone-binding globulin

A research study led by Boston University School of Medicine (BUSM) and the University of Exeter in the United Kingdom, in collaboration with a global consortium, has identified genetic markers that influence a protein involved in regulating estrogen and testosterone levels in the bloodstream.

21 Jul 2012

Natural compound can virtually eradicate HIV in infected culture cells

A new study by scientists on the Florida campus of The Scripps Research Institute shows, in cell culture, a natural compound can virtually eliminate human immunodeficiency virus (HIV) in infected cells. The compound defines a novel class of HIV anti-viral drugs endowed with the capacity to repress viral replication in acutely and chronically infected cells.

20 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

Study helps explain why leukemia occurs more frequently as people age

Hundreds of mutations exist in leukemia cells at the time of diagnosis, but nearly all occur randomly as a part of normal aging and are not related to cancer, new research shows.

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

Premier research institutions, Biogen Idec partner to sequence genomes of patients with ALS

Biogen Idec today announced that it has entered into a research collaboration with premier academic and research institutions to sequence the genomes of up to 1,000 patients with amyotrophic lateral sclerosis (ALS) in an effort to gain a deeper understanding about the fundamental genetic causes of ALS.

17 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

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

Scientists develop first cell-based model of Alzheimer's disease

A team of scientists at The New York Stem Cell Foundation (NYSCF) Laboratory led by Scott Noggle, PhD, NYSCF-Charles Evans Senior Research Fellow for Alzheimer's Disease, has developed the first cell-based model of Alzheimer's disease (AD) by reprogramming skin cells of Alzheimer's patients to become brain cells that are affected in Alzheimer's.

17 Jul 2012

BRAF L597 mutation in melanoma patients responds to MEK inhibitor drugs

An uncommon mutation of the BRAF gene in melanoma patients has been found to respond to MEK inhibitor drugs, providing a rationale for routine screening and therapy in melanoma patients who harbor the BRAF L597 mutation.

17 Jul 2012

Researchers define interaction between two essential proteins that control inflammation

Researchers at the IRCM, led by geneticist Dr. Jacques Drouin, recently defined the interaction between two essential proteins that control inflammation.

14 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

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