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Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise to a particularly extreme version of dwarfism, small brain size, and other manifestations of abnormal growth which generally characterize that rare condition.

1 Aug 2012

Chk1 gene alone is sufficient to kill cancer cells

Researchers at Case Western Reserve University School of Medicine have discovered a mutant form of the gene, Chk1, that when expressed in cancer cells, permanently stopped their proliferation and caused cell death without the addition of any chemotherapeutic drugs.

1 Aug 2012

NYGC purchases four Life Technologies' Ion Proton Sequencers

Life Technologies Corporation today announced that the New York Genome Center (NYGC) has purchased four Ion Proton Sequencers for its new Innovation Center.

31 Jul 2012

Australia's top medical researchers for 2012 announced

Finalists for one of Australia’s longest running and most prestigious awards for medical research were announced today. This year’s winner will join a list of alumni winners that includes many of the country’s most respected scientists.

31 Jul 2012

EPHA3 mutations may be important drivers of lung cancers

Vanderbilt-Ingram Cancer Center researchers have identified how one of the genes most commonly mutated in lung cancer may promote such tumors.

31 Jul 2012

ATP1A3 gene mutations responsible for alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a rare disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one side of the body, then the other. Symptoms mysteriously appear and disappear, again and again, and affected children often experience dozens of episodes per week. As they get older, children fall progressively behind their peers in both intellectual abilities and motor skills, and more than half develop epilepsy.

31 Jul 2012

Gene for sporadic paralysis of childhood discovered

Researchers have identified de novo mutations in the ATP1A3 gene that they believe are responsible for a sporadic childhood paralysis known as alternating hemiplegia of childhood.

30 Jul 2012

Study sheds light on complexities of cancer genetics

30 Jul 2012

Scientists identify new gene responsible for genetic form of blindness in newborns

One of the mysteries of blindness has been solved. A team of international scientists in collaboration with the Research Institute of the McGill University Health Centre (RI MUHC) identified a new gene responsible for Leber Congenital Amaurosis (LCA), a devastating genetic form of blindness in newborns.

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

MCW, Transgenomic partner to offer next-generation genetic testing services

Transgenomic, Inc. and the Medical College of Wisconsin today announced a collaboration agreement under which Transgenomic will offer next-generation genetic testing services performed at the MCW Clinical Sequencing Program. These services will initially include Transgenomic's NuclearMitome Test for mitochondrial disorders.

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

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