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McArdle Disease News

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Health News Posted on May 23, 2013
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Research: PARP Inhibitor Shows Activity in Pancreatic, Prostate Cancers Among Patients Carrying BRCA Mutations
Research: PARP Inhibitor Shows Activity in Pancreatic, Prostate Cancers Among Patients Carrying BRCA Mutations
The oral drug olaparib was found to be effective against advanced pancreatic and prostate cancers in the largest clinical trial to date to examine the efficacy of PARP inhibitor therapy in B... 
One Type of Blue-baby Syndrome Explains Why Mutation Causing Wrong-way Plumbing
One Type of Blue-baby Syndrome Explains Why Mutation Causing Wrong-way Plumbing
Total anomalous pulmonary venous connection (TAPVC) is a potentially deadly congenital disorder that occurs when pulmonary veins don't connect normally to the left atrium of the heart. It i... 
Pre-Birth Genetic Mutation Causes Sturge-Weber Syndrome, Port-Wine Stain Birthmarks
Pre-Birth Genetic Mutation Causes Sturge-Weber Syndrome, Port-Wine Stain Birthmarks
Researchers at Kennedy Krieger Institute have identified that a genetic mutation that occurs before the birth of a child is responsible for Sturge-Weber syndrome (SWS) and port-wine stain bi... 
Mutation Driving Pediatric Brain Tumors Identified
Mutation Driving Pediatric Brain Tumors Identified
A lethal brain tumor in children has been found to contain an unusual mutation that may help to classify, diagnose and guide the treatment of the tumors, say scientists. The researc... 
Scientists Identify Gene Mutations Associated With Nearsightedness
Scientists Identify Gene Mutations Associated With Nearsightedness
Mutations in a gene that are associated with a severe form of nearsightedness have been discovered by scientists. Nearsightedness - also known as myopia - is the most common human ... 
Lung Cancer Patients Who Carry Specific HER2 Mutations may Benefit from Certain Anti-HER2 Treatments
Lung Cancer Patients Who Carry Specific HER2 Mutations may Benefit from Certain Anti-HER2 Treatments
New study suggest that anti-HER2 treatments, like the widely used breast cancer agent trastuzumab (Herceptin), have anti-cancer effects in a small subset of patients with advanced non-small ... 
Prostate Cancer Caused by Periodic Bursts of Mutation
Prostate Cancer Caused by Periodic Bursts of Mutation
Earlier, it was presumed that cancer occurs when certain genes mutate over a period of time, after which the cell loses its ability to control growth. But a new closer look at genomes in pro... 
Research: Tumors With ALK Rearrangements can Harbor More Mutations
Research: Tumors With ALK Rearrangements can Harbor More Mutations
An exciting advancement in lung cancer treatment is the identification of potentially targetable kinase mutations. Although the mutations driving many lung carcinomas remain unknown, approx... 
Haiti Cholera Gene Mutations may Lead to More Severe Disease
Haiti Cholera Gene Mutations may Lead to More Severe Disease
In 2010, the cholera strain that transferred to Haiti has multiple toxin gene mutations that may account for the severity of disease and is evolving to be more like an 1800s version of chole... 
Gene Mutation That Causes Children to be Born Without Spleen Identified
Gene Mutation That Causes Children to be Born Without Spleen Identified
Scientists have discovered the defective gene that causes kids to be born without spleen. The findings, reported today in Science Express, may lead to new diagnostic tests and raises new que... 
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