Mutation News and Research

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Mutation in a gene could play role in congenital heart disease, say researchers

A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart disease-the most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide Children's Hospital, could help narrow the search for genes that contribute to this defect, which affects as many as 40,000 newborns a year.

30 Jul 2013

Trovagene adopts RainDance's RainDrop digital PCR system for eventual use in CLIA laboratory

Trovagene, Inc. (NASDAQ: TROV) and RainDance Technologies announced today that Trovagene has adopted RainDance's RainDropTM Digital PCR System for research and development, and for eventual use in the Trovagene CLIA laboratory.

29 Jul 2013

New method can pinpoint DNA mutations that could help treat cancer, tuberculosis

The slightest variation in a sequence of DNA can have profound effects. Modern genomics has shown that just one mutation can be the difference between successfully treating a disease and having it spread rampantly throughout the body.

29 Jul 2013

Professor to receive Janet L. Norwood Award for Outstanding Achievement by Woman in Statistical Sciences

Carnegie Mellon University's Kathryn Roeder has been chosen to receive the Janet L. Norwood Award for Outstanding Achievement by a Woman in the Statistical Sciences.

26 Jul 2013

New species of adenovirus can spread from monkey to human, say researchers

Adenoviruses commonly infect humans, causing colds, flu-like symptoms and sometimes even death, but now UC San Francisco researchers have discovered that a new species of adenovirus can spread from primate to primate, and potentially from monkey to human.

26 Jul 2013

EGFR mutation testing dropped once funding from pharmaceutical industry discontinued

Significant advances have taken place in the management of patients with advanced and metastatic non-small-cell lung cancer over the last 5 years. Traditionally, all advanced NSCLC patients were treated in a similar manner.

26 Jul 2013

Silk implants placed in brain of animals may help stop progression of epilepsy

Silk has walked straight off the runway and into the lab. According to a new study published in the Journal of Clinical Investigation, silk implants placed in the brain of laboratory animals and designed to release a specific chemical, adenosine, may help stop the progression of epilepsy.

26 Jul 2013

NeoGenomics launches clinical molecular tests for comprehensive profiling of MDS

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today that it has validated and launched a number of clinical molecular tests for the comprehensive profiling of myelodysplastic syndrome.

25 Jul 2013

EKF Diagnostics introduces STAT-Site M ß-HB strip test for DKA assessment

EKF Diagnostics, the global in vitro diagnostics business, announces the worldwide launch of the new STAT-Site M ß-HB, following successful CE marking.

From EKF Diagnostics 25 Jul 2013

Discovery points to new therapeutic strategy for Parkinson's disease

Biologists at The Scripps Research Institute have made a significant discovery that could lead to a new therapeutic strategy for Parkinson's disease.

25 Jul 2013

Discovery of pressure-driven infection mechanism opens door to new treatments for viral infections

The virus that causes those painful lip blisters known as cold sores has an internal pressure eight times higher than a car tire, and uses it to literally blast its infectious DNA into human cells, scientists are reporting in a new study.

25 Jul 2013

GW professor receives $747,000 grant to research causes of severe intellectual disability and autism

As part of a national focus to better understand child health and development, Chiara Manzini, Ph.D., assistant professor of pharmacology and physiology at the George Washington University School of Medicine and Health Sciences, was awarded a $747,000 grant to research the causes of severe intellectual disability and autism.

25 Jul 2013

Stem cell-based epilepsy approach may help in search for better medicines to treat seizure disorders

A new stem cell-based approach to studying epilepsy has yielded a surprising discovery about what causes one form of the disease, and may help in the search for better medicines to treat all kinds of seizure disorders.

25 Jul 2013

Discovery could lead to new therapeutic strategy for Parkinson's disease

Biologists at The Scripps Research Institute (TSRI) have made a significant discovery that could lead to a new therapeutic strategy for Parkinson's disease.

25 Jul 2013

Scientists identify new genetic mutations that can cause pulmonary arterial hypertension

Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs.

25 Jul 2013

Faulty genetic pathway is a potent player in many types of allergies, say researchers

Newly published research by investigators at the Johns Hopkins Children's Center and the Johns Hopkins Institute of Genetic Medicine reveals that a faulty genetic pathway already known for its role in some connective tissue disorders is also a potent player in many types of allergies.

25 Jul 2013

Researcher identify genetic mutation in Africans with HIV that puts them at higher risk for tuberculosis

A researcher from the Perelman School of Medicine at the University of Pennsylvania and colleagues have identified the genetic mutation in Africans with HIV that puts them at a much higher risk for tuberculosis (TB) infections.

25 Jul 2013

Inovio plans to advance synthetic hTERT cancer vaccine into clinical trials in 2014

Inovio Pharmaceuticals, Inc. announced today that in a preclinical study with two animal models, Inovio's hTERT (human telomerase reverse transcriptase) DNA cancer vaccine administered with Inovio's CELLECTRA adaptive electroporation delivery technology generated robust and broad immune responses, broke the immune system's tolerance to its self-antigens, induced T-cells with a tumor-killing function, and increased the rate of survival.

24 Jul 2013

Researchers provide new model for studying drug targets and therapies for AIH

A gene mutation disrupts the activity of certain immune cells and causes the immune system to erroneously attack the liver, according to a new animal study from the Icahn School of Medicine at Mount Sinai.

24 Jul 2013

Four research teams receive NIH grants to explore use of genome sequencing in medical care

The National Institutes of Health has awarded four grants for up to four years to multidisciplinary research teams to explore the use of genome sequencing in medical care. The awards total approximately $6.7 million in the first year and, if funding remains available, approximately $27 million in total.

24 Jul 2013

Mutation News and Research

Mutation in a gene could play role in congenital heart disease, say researchers

Trovagene adopts RainDance's RainDrop digital PCR system for eventual use in CLIA laboratory

New method can pinpoint DNA mutations that could help treat cancer, tuberculosis

Professor to receive Janet L. Norwood Award for Outstanding Achievement by Woman in Statistical Sciences

New species of adenovirus can spread from monkey to human, say researchers

EGFR mutation testing dropped once funding from pharmaceutical industry discontinued

Silk implants placed in brain of animals may help stop progression of epilepsy

NeoGenomics launches clinical molecular tests for comprehensive profiling of MDS

EKF Diagnostics introduces STAT-Site M ß-HB strip test for DKA assessment

Discovery points to new therapeutic strategy for Parkinson's disease

Discovery of pressure-driven infection mechanism opens door to new treatments for viral infections

GW professor receives $747,000 grant to research causes of severe intellectual disability and autism

Stem cell-based epilepsy approach may help in search for better medicines to treat seizure disorders

Discovery could lead to new therapeutic strategy for Parkinson's disease

Scientists identify new genetic mutations that can cause pulmonary arterial hypertension

Faulty genetic pathway is a potent player in many types of allergies, say researchers

Researcher identify genetic mutation in Africans with HIV that puts them at higher risk for tuberculosis

Inovio plans to advance synthetic hTERT cancer vaccine into clinical trials in 2014

Researchers provide new model for studying drug targets and therapies for AIH

Four research teams receive NIH grants to explore use of genome sequencing in medical care

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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