News tagged with rare genetic disorder
Nervous system may be culprit in deadly muscle disease
May 25, 2009 |
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Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.
Abnormal EKG can predict death in stroke patients
Mar 20, 2009 |
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People who suffer an ischemic stroke and also have an abnormality in the heart's electrical cycle are at a higher risk of death within 90 days than people who do not have abnormal electrical activity at the time of emergency ...
Sociability traced to particular region of brain
Jan 27, 2009 |
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People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so. The researchers ...
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Research sheds light on workings of anti-cancer drug
Chemistry / Analytical Chemistry
21 hours ago |
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(PhysOrg.com) -- The copper sequestering drug tetrathiomolybdate (TM) has been shown in studies to be effective in the treatment of Wilson disease, a disease caused by an overload of copper, and certain metastatic cancers. ...
Knockouts in human cells point to pathogenic targets
Nov 26, 2009 |
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(PhysOrg.com) -- Whitehead researchers have developed a new approach for genetics in human cells and used this technique to identify specific genes and proteins required for pathogens.
Scientists report first effective medical therapy for rare stomach disorder
Nov 25, 2009 |
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A drug used to treat colorectal cancer also can reverse a rare stomach disorder and should be considered first-line therapy for the disease, researchers at Vanderbilt University Medical Center report this week.
Cells defend themselves from viruses, bacteria with armor of protein errors
Nov 25, 2009 |
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When cells are confronted with an invading virus or bacteria or exposed to an irritating chemical, they protect themselves by going off their DNA recipe and inserting the wrong amino acid into new proteins to defend them ...
Scientists find emotion-like behaviors, regulated by dopamine, in fruit flies
Medicine & Health / Neuroscience
Nov 25, 2009 |
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Scientists at the California Institute of Technology have uncovered evidence of a primitive emotion-like behavior in the fruit fly, Drosophila melanogaster. Their findings, which may be relevant to the relationship betwee ...
Discovery leads to effective treatment of painful skin condition
Nov 24, 2009 |
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Researchers at Huntsman Cancer Institute, in collaboration with a worldwide group of physicians and scientists, have discovered a remarkable treatment for a rare, yet debilitating, skin condition.
Gene therapy improves vision
Nov 23, 2009 |
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German scientist Paul Ehrlich found what he coined the "magic bullet" in the early 20th century upon developing the world’s first effective treatment of syphilis.
Military experiment seeks to predict PTSD
Medicine & Health / Psychology & Psychiatry
Nov 20, 2009 |
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(AP) -- Two days before shipping off to war, Marine Pfc. Jesse Sheets sat inside a trailer in the Mojave Desert, his gaze fixed on a computer that flashed a rhythmic pulse of contrasting images.
Researchers Begin to Decipher Metabolism of Sexual Assault Drug
Nov 19, 2009 |
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(PhysOrg.com) -- It’s a naturally occurring brain chemical with an unwieldy name: 4-hydroxybutyrate (4-HB). Taken by mouth, it can be abused or used as a date-rape drug.
Genome advances promise personalized medical treatment
Nov 18, 2009 |
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A whirlwind of activity is under way to apply the findings of the $3 billion Human Genome Project to improve health care in the United States and around the world.
List of search results for rare genetic disorder


