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New insight into germline EGFR T790M mutation in familial non-small cell lung cancer

Two studies are providing new insight into germline epidermal growth factor receptor (EGFR) T790M mutation in familial non-small cell lung cancer (NSCLC). The findings suggest the need for tailored approaches for early detection and treatment, as well as for genetic testing to identify carriers.

24 Mar 2014

People with rare inherited mutated gene have high chance of getting lung cancer

People who have an inherited mutation of a certain gene have a high chance of getting lung cancer — higher, even, than heavy smokers with or without the inherited mutation, according to new findings by cancer researchers at UT Southwestern Medical Center. Although both genders have an equal risk of inheriting the mutation, those who develop lung cancer are mostly women and have never smoked, the researchers found.

24 Mar 2014

First contact with psychiatric specialists hastens schizophrenia treatment

Patients with first-onset psychosis wait less time for treatment if they visit emergency clinics staffed by specialist psychiatric teams than their counterparts who access healthcare in community settings, report researchers.

21 Mar 2014

Scientists explore link between SCN10A and cardiac arrhythmia risk

Although genome-wide association studies have linked DNA variants in the gene SCN10A with increased risk for cardiac arrhythmia, efforts to determine the gene's direct influence on the heart's electrical activity have been unproductive. Now, scientists from the University of Chicago have discovered that these SCN10A variants regulate the function of a different gene, SCN5A, which appears to be the primary gene responsible for cardiac arrhythmia risk.

21 Mar 2014

Researchers identify genetic defect that causes a subset of irritable bowel syndrome

Is irritable bowel syndrome (IBS) caused by genetics, diet, past trauma, anxiety? All are thought to play a role, but now, for the first time, researchers have reported a defined genetic defect that causes a subset of IBS. The research was published in the journal Gastroenterology.

21 Mar 2014

Concordia Healthcare enters into definitive agreement to acquire Donnatal

Concordia Healthcare Corp., announced today that it has entered into a definitive agreement to acquire Donnatal®, an adjunctive therapy in the treatment of irritable bowel syndrome ("IBS") and acute enterocolitis, from a privately held specialty pharmaceutical company carrying on business as Revive Pharmaceuticals ("Revive Pharmaceuticals").

20 Mar 2014

Primary negative symptoms worsen functioning in schizophrenia

Primary negative symptoms adversely affect social, vocational and recreational functioning in patients with schizophrenia, even when the potential influence of secondary negative symptoms has been accounted for, Canadian researchers report.

19 Mar 2014

Study provides better understanding of why chromosome errors are high in women's eggs

A new study from the University of Southampton has provided scientists with a better understanding of why chromosome errors are high in women's eggs.

19 Mar 2014

Restless legs syndrome alters expression of critical gene during fetal development of brain

In a study published online in Genome Research, researchers of the Helmholtz Zentrum München und the Technische Universität München have demonstrated that a common genetic variant associated with Restless Legs Syndrome (RLS) alters the expression of a critical gene during fetal development of the brain.

19 Mar 2014

States highlights: N.C. Medicaid overhaul; Conn. 'aid in dying' bill; Calif. Medical expenses crowdfunding

North Carolina health officials said Monday that their long-awaited proposal to overhaul how Medicaid operates in North Carolina is "realistic" and "achievable" and will make state budgets more predictable.

19 Mar 2014

UCLA creates new program that helps adoptive parents, children navigate through international adoption process

With thousands of internationally adopted children arriving in the United States each year, there is a growing demand for a specialized health-care support system that helps adoptive parents and children navigate through the international adoption process.

19 Mar 2014

Biologists discover WBC moves to inflamed sites by walking in a stepwise manner

A team of biologists and engineers at the University of California, San Diego has discovered that white blood cells, which repair damaged tissue as part of the body's immune response, move to inflamed sites by walking in a stepwise manner.

19 Mar 2014

Nine fellows selected to receive Dennis Weatherstone Predoctoral Fellowship for next two years

Autism Speaks, the world's leading autism science and advocacy organization, today announced the sixth class of The Dennis Weatherstone Predoctoral Fellows funded by the Stavros Niarchos Foundation.

19 Mar 2014

Professor receives 2014 Rolf Luft Award for research on diabetes and endocrinology

Dr. Roger Unger, Professor of Internal Medicine at UT Southwestern Medical Center has been awarded the 2014 Rolf Luft Award for his identification of glucagon as a pancreatic hormone that raises blood sugar levels, having the opposite effect of insulin.

18 Mar 2014

New standard for U.S. heart transplantation

The Cedars-Sinai Heart Institute has set a new standard for U.S. heart transplantation by completing 117 adult heart transplants and two adult heart-lung transplants, for a total of 119 adult heart transplants in a single year. The previous number set in 2005, was 98 adult heart transplants performed in one year.

18 Mar 2014

Study: Identifying biomarkers could lead to earlier detection of preeclampsia

Identifying biomarkers could lead to earlier detection of preeclampsia, which in turn can lead to healthier mothers and children, according to a collaborative study from the Centre of Molecular Inflammation Research (CEMIR) and the MR Cancer Group at the Norwegian University of Science and Technology (NTNU).

18 Mar 2014

Study: Men are more likely to receive faster care for heart attacks and angina than women

A new study indicates that in younger adults experiencing heart attacks and angina, men are more likely to receive faster care compared with women. The study, published in CMAJ (Canadian Medical Association Journal) also found that gender-related factors affected access to care for both men and women.

18 Mar 2014

Sports medicine physicians to convene at 2014 AMSSM Annual Meeting

More than 1,400 sports medicine physicians from the United States and abroad will attend the 23rd Annual Meeting of the American Medical Society for Sports Medicine (AMSSM), the largest primary care sports medicine physician organization in the nation.

17 Mar 2014

Edison Pharmaceuticals begins EPI-743 clinical trial in children with Pearson syndrome

Edison Pharmaceuticals today announced the initiation of a phase 2 study entitled "A Phase 2 Safety and Efficacy Study of EPI-743 (Vincerinone™) in Children with Pearson Syndrome." The Investigative New Drug application (IND) was approved by the Food and Drug Administration, Office of Hematology and Oncology Products.

17 Mar 2014

UC Davis MIND Institute named Intellectual and Developmental Disabilities Research Center

The UC Davis MIND Institute has been named an Intellectual and Developmental Disabilities Research Center, through a prestigious grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health - a distinction held by only a handful of neurodevelopmental centers nationwide committed to the diagnosis, prevention, treatment and amelioration of developmental disorders such as autism, fragile X syndrome and Down syndrome.

14 Mar 2014

Syndrome News and Research

New insight into germline EGFR T790M mutation in familial non-small cell lung cancer

People with rare inherited mutated gene have high chance of getting lung cancer

First contact with psychiatric specialists hastens schizophrenia treatment

Scientists explore link between SCN10A and cardiac arrhythmia risk

Researchers identify genetic defect that causes a subset of irritable bowel syndrome

Concordia Healthcare enters into definitive agreement to acquire Donnatal

Primary negative symptoms worsen functioning in schizophrenia

Study provides better understanding of why chromosome errors are high in women's eggs

Restless legs syndrome alters expression of critical gene during fetal development of brain

States highlights: N.C. Medicaid overhaul; Conn. 'aid in dying' bill; Calif. Medical expenses crowdfunding

UCLA creates new program that helps adoptive parents, children navigate through international adoption process

Biologists discover WBC moves to inflamed sites by walking in a stepwise manner

Nine fellows selected to receive Dennis Weatherstone Predoctoral Fellowship for next two years

Professor receives 2014 Rolf Luft Award for research on diabetes and endocrinology

New standard for U.S. heart transplantation

Study: Identifying biomarkers could lead to earlier detection of preeclampsia

Study: Men are more likely to receive faster care for heart attacks and angina than women

Sports medicine physicians to convene at 2014 AMSSM Annual Meeting

Edison Pharmaceuticals begins EPI-743 clinical trial in children with Pearson syndrome

UC Davis MIND Institute named Intellectual and Developmental Disabilities Research Center

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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