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Salk Institute to establish Helmsley Center for Genomic Medicine

The Salk Institute for Biological Studies has received a $42 million gift-the largest in the Institute's history-to establish the Helmsley Center for Genomic Medicine (HCGM), a research center dedicated to decoding the common genetic factors underlying many complex chronic human diseases.

23 Jan 2013

Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of brain tumors known as meningiomas, a finding that could lead to the first effective drug treatments for the tumors, report scientists from Dana-Farber Cancer Institute and the Broad Institute.

23 Jan 2013

Novel way to engineer specialized immune cells targeted by the AIDS virus

Researchers at the Stanford University School of Medicine have found a novel way to engineer key cells of the immune system so they remain resistant to infection with HIV, the virus that causes AIDS.

23 Jan 2013

SV Bio, Mayo Clinic partner on whole genome diagnostics and interpretation

Mayo Clinic and Silicon Valley Biosystems (SV Bio) today announced a strategic collaboration for whole genome diagnostics and interpretation at the Mayo Clinic Center for Individualized Medicine and Mayo Medical Laboratories.

23 Jan 2013

SLU team discovers molecular pathway that contributes to triple-negative breast cancer

In research published in the Jan. 17 issue of The Journal of Cell Biology, a team led by Susana Gonzalo, Ph.D., assistant professor of biochemistry and molecular biology at Saint Louis University, has discovered a molecular pathway that contributes to triple-negative breast cancer, an often deadly and treatment resistant form of cancer that tends to strike younger women.

23 Jan 2013

ParseCNV software can detect disease-causing copy number variations

A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.

22 Jan 2013

Rainbow Coral visits genome-mapping facility in Houston

Since the new year began, Rainbow Coral Corp. has wasted no time in searching for new targets to add to its portfolio of projects for commercialization. Last week, the Company's executive leadership accepted an invitation to tour a genome-mapping facility in Houston with which RBCC could soon partner.

22 Jan 2013

Studies suggest a new approach to treating HIV

A team of researchers based at Johns Hopkins has decoded a system that makes certain types of immune cells impervious to HIV infection.

22 Jan 2013

New details about molecular surveillance system that helps detect and correct errors in cell division

Studies led by cell biologist Thomas Maresca at the University of Massachusetts Amherst are revealing new details about a molecular surveillance system that helps detect and correct errors in cell division that can lead to cell death or human diseases. Findings are reported in the current issue of the Journal of Cell Biology.

21 Jan 2013

Scientists identify a possible lead in treatment of two childhood leukemia subtypes

Research led by St. Jude Children's Research Hospital scientists has identified a possible lead in treatment of two childhood leukemia subtypes known for their dramatic loss of chromosomes and poor treatment outcomes.

21 Jan 2013

Study refocuses on how neuroblastoma tumors evolve in response to medicine and other factors

An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relatively few recurrent gene mutations—mutations that would suggest new targets for neuroblastoma treatment. Instead, say the researchers, they have now refocused on how neuroblastoma tumors evolve in response to medicine and other factors.

21 Jan 2013

Researchers identify clear role for tags in mediating genetic risk for rheumatoid arthritis

In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults.

21 Jan 2013

G-quadruplexes also exist within the human genome

In 1953, Cambridge researchers Watson and Crick published a paper describing the interweaving 'double helix' DNA structure - the chemical code for all life.

21 Jan 2013

Early life exposure to gut microbes protects against autoimmune disease

Early life exposure to normal bacteria of the GI tract (gut microbes) protects against autoimmune disease in mice, according to research published on-line in the January 17 edition of Science. The study may also have uncovered reasons why females are at greater risk of autoimmune diseases such as multiple sclerosis, rheumatoid arthritis, and lupus compared to males.

18 Jan 2013

Study identifies genes for central corneal thickness that may cause eye conditions

Scientists at Singapore Eye Research Institute and A*STAR's Genome Institute of Singapore have succeeded in identifying genes for central corneal thickness that may cause potentially blinding eye conditions. These eye conditions include glaucoma, as well as the progressive thinning of the cornea, which may eventually lead to a need for corneal transplantation.

17 Jan 2013

Positive gene therapy results in large mammals of Duchenne muscular dystrophy

Usually, results from a new study help scientists inch their way toward an answer whether they are battling a health problem or are on the verge of a technological breakthrough. Once in a while, those results give them a giant leap forward. In a preliminary study in a canine model of Duchenne muscular dystrophy (DMD), University of Missouri scientists showed exactly such a leap using gene therapy to treat muscular dystrophy.

17 Jan 2013

Blocking cholesterol biosynthesis pathway in cancer cells appears to improve ability of common drugs

Shutting down a specific pathway in cancer cells appears to improve the ability of common drugs to wipe those cells out, according to new research from scientists at Fox Chase Cancer Center, published in the January issue of Cancer Discovery.

16 Jan 2013

MI-ONCOSEQ program identifies NAB2-STAT6 fusion in solitary fibrous tumors

It started with a 44-year-old woman with solitary fibrous tumor, a rare cancer seen in only a few hundred people each year. By looking at the entire DNA from this one patient's tumor, researchers have found a genetic anomaly that provides an important clue to improving how this cancer is diagnosed and treated.

16 Jan 2013

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

Health, science and genetics reporters are invited to register now for the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, March 19-23, 2013 at the Phoenix Convention Center.

16 Jan 2013

Genome News and Research

Salk Institute to establish Helmsley Center for Genomic Medicine

Researchers pinpoint several inherited mutations in autism

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Novel way to engineer specialized immune cells targeted by the AIDS virus

SV Bio, Mayo Clinic partner on whole genome diagnostics and interpretation

SLU team discovers molecular pathway that contributes to triple-negative breast cancer

ParseCNV software can detect disease-causing copy number variations

Rainbow Coral visits genome-mapping facility in Houston

Studies suggest a new approach to treating HIV

New details about molecular surveillance system that helps detect and correct errors in cell division

Scientists identify a possible lead in treatment of two childhood leukemia subtypes

Study refocuses on how neuroblastoma tumors evolve in response to medicine and other factors

Researchers identify clear role for tags in mediating genetic risk for rheumatoid arthritis

G-quadruplexes also exist within the human genome

Early life exposure to gut microbes protects against autoimmune disease

Study identifies genes for central corneal thickness that may cause eye conditions

Positive gene therapy results in large mammals of Duchenne muscular dystrophy

Blocking cholesterol biosynthesis pathway in cancer cells appears to improve ability of common drugs

MI-ONCOSEQ program identifies NAB2-STAT6 fusion in solitary fibrous tumors

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

Genetics & Genomics - Second Edition eBook

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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