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Autistic-like behaviors linked with disruption of Adenomatous Polyposis Coli gene

Autistic-like behaviors and decreased cognitive ability may be associated with disruption of the function of the Adenomatous Polyposis Coli (APC) gene.

17 Jun 2014

International researchers discover genetic component of Idiopathic Generalized Epilepsy

An international team of researchers has discovered a significant genetic component of Idiopathic Generalized Epilepsy (IGE), the most common form of epilepsy.

17 Jun 2014

Combination of effective drugs for Parkinson's disease controls symptoms of Rett syndrome in mice

IDIBELL researchers, led by the director of the Program for Epigenetics and Cancer Biology, ICREA researcher and Professor of Genetics at the University of Barcelona, Manel Esteller, have shown that a combination of effective drugs for Parkinson's disease in mice that are used as a model of human Rett syndrome reduces some of the symptoms associated with this disease.

17 Jun 2014

Chikungunya virus puts some regions at risk of epidemic

For the first time, University of Texas Medical Branch at Galveston researchers were able to predict further adaptations of the chikungunya virus that recently spread from Africa to several continents that will likely result in even more efficient transmission and infection of more people by this virus strain.

17 Jun 2014

Survival differences after docetaxel, erlotinib are EGFR dependent

Results from the DELTA trial indicate no significant differences in progression-free or overall survival after treatment with docetaxel versus erlotinib in non-small-cell lung cancer patients unselected for their epidermal growth factor receptor mutation status.

16 Jun 2014

Trovagene enters into clinical collaboration with Dana-Farber Cancer Institute

Trovagene, Inc. today announced that it has entered into a clinical collaboration with Dana-Farber Cancer Institute to investigate the utility of quantitative urine-based mutation detection and the ability to monitor tumor mutation burden and treatment response over time in metastatic melanoma patients.

16 Jun 2014

Counseling from genetic health care provider may help reduce unnecessary procedures

A new Moffitt Cancer Center study published Thursday in Genetics in Medicine shows that counseling from a genetic health care provider before genetic testing educates patients and may help reduce unnecessary procedures.

16 Jun 2014

Greenwood Genetic and Clemson receive first round of fund from SRHC

Seven research projects from Greenwood Genetic Center and Clemson University faculty were selected to receive the first round of funding provided by Self Regional Healthcare (SRHC).

16 Jun 2014

Kids with rare mutations in two genes are 4 times more likely to develop severe scoliosis

Children with rare mutations in two genes are about four times more likely to develop severe scoliosis than their peers with normal versions of the genes, scientists have found.

16 Jun 2014

Researchers identify tremendous genetic diversity

In the most comprehensive genetic study of the Mexican population to date, researchers from UC San Francisco and Stanford University, along with Mexico's National Institute of Genomic Medicine (INMEGEN), have identified tremendous genetic diversity, reflecting thousands of years of separation among local populations and shedding light on a range of confounding aspects of Latino health.

13 Jun 2014

Study of human embryonic stems cells identifies bottlenecks restricting formation of colonies

A time-lapse study of human embryonic stems cells has identified bottlenecks restricting the formation of colonies, a discovery that could lead to improvement in their use in regenerative medicine.

13 Jun 2014

Study examines effect of phthalate exposure in humans’ sperm epigenetics

A new three-year, $440,000 study led by environmental health scientist Richard Pilsner at the University of Massachusetts Amherst is now underway to investigate whether phthalate levels in expectant fathers have an effect on the couples' reproductive success, via epigenetic modifications of sperm DNA.

12 Jun 2014

Novel bone implants can keep germs at bay

Hospital germs can be fatal, since they are resistant to antibiotics. As a result, alternative methods of defense against bacteria are in demand. Fortunately, a German-French research team has been able to develop bone implants that keep the germs at bay.

11 Jun 2014

Gene variant that increases risk of type 2 diabetes identified in Latino individuals

A genetic analysis of DNA samples of approximately 3,700 Mexican and U.S. Latino individuals identified a gene variant that was associated with a 5-fold increase in the prevalence of type 2 diabetes, findings that may have implications for screening in this population, according to a study in the June 11 issue of JAMA, a diabetes theme issue.

11 Jun 2014

Research to identify new potential targets for cancer therapy

In 2012, about 8.2 million people died of cancer making the disease a major cause of death worldwide. According to the WHO World Cancer Report 2014, this figure is expected to rise within the next two decades.

11 Jun 2014

Researchers discover strong genetic risk factor for type 2 diabetes in Latin American patients

In the largest study of its kind published to date, an international team of researchers in Mexico and the United States has discovered a strong genetic risk factor for type 2 diabetes that primarily affects Latin American patients, but is rare elsewhere.

11 Jun 2014

Research finding paves way for targeted approaches to treating cancer patients

Twelve years ago, UNC School of Medicine researcher Brian Strahl, PhD, found that a protein called Set2 plays a role in how yeast genes are expressed - specifically how DNA gets transcribed into messenger RNA. Now his lab has found that Set2 is also a major player in DNA repair, a complicated and crucial process that can lead to the development of cancer cells if the repair goes wrong.

9 Jun 2014

Advances in understanding of genetics of CAD lead to more therapeutic targets

Advances in the understanding of the genetics of coronary artery disease, or CAD, will revitalize the field and lead to more therapeutic targets for new medicines to combat this common disease, suggests a genetics expert from the Perelman School of Medicine at the University of Pennsylvania in a Perspective article in the new issue of Science Translational Medicine.

9 Jun 2014

New targets could increase effectiveness and reduce side effects linked with breast cancer treatments

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have found new targets for potential intervention in breast cancer. These new targets could eventually increase effectiveness and reduce the undesirable side effects associated with current treatments.

6 Jun 2014

Healthy tissue grafted to brains of patients with Huntington's disease also develops signs of illness

A recent study published in Annals of Neurology reports that healthy human tissue grafted to the brains of patients with Huntington's disease in the hopes of treating the neurological disorder also developed signs of the illness, several years after the graft.

6 Jun 2014

Mutation News and Research

Autistic-like behaviors linked with disruption of Adenomatous Polyposis Coli gene

International researchers discover genetic component of Idiopathic Generalized Epilepsy

Combination of effective drugs for Parkinson's disease controls symptoms of Rett syndrome in mice

Chikungunya virus puts some regions at risk of epidemic

Survival differences after docetaxel, erlotinib are EGFR dependent

Trovagene enters into clinical collaboration with Dana-Farber Cancer Institute

Counseling from genetic health care provider may help reduce unnecessary procedures

Greenwood Genetic and Clemson receive first round of fund from SRHC

Kids with rare mutations in two genes are 4 times more likely to develop severe scoliosis

Researchers identify tremendous genetic diversity

Study of human embryonic stems cells identifies bottlenecks restricting formation of colonies

Study examines effect of phthalate exposure in humans’ sperm epigenetics

Novel bone implants can keep germs at bay

Gene variant that increases risk of type 2 diabetes identified in Latino individuals

Research to identify new potential targets for cancer therapy

Researchers discover strong genetic risk factor for type 2 diabetes in Latin American patients

Research finding paves way for targeted approaches to treating cancer patients

Advances in understanding of genetics of CAD lead to more therapeutic targets

New targets could increase effectiveness and reduce side effects linked with breast cancer treatments

Healthy tissue grafted to brains of patients with Huntington's disease also develops signs of illness

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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