Common enzyme deficiency may hinder plans to eradicate malaria
In malaria-endemic countries, 350 million people are predicted to be deficient in an enzyme that means they can suffer severe complications from taking primaquine, a key drug for treating relapsing malaria, according to a ...
Diseases, Conditions, Syndromes
Nov 13, 2012 |
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Extra chromosome 21 removed from Down syndrome cell line
(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's ...
Medical research
Nov 09, 2012 |
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Preclinical muscular dystrophy data shows promise
Cedars-Sinai Heart Institute researchers have found that an experimental compound may help stem the debilitating effects of muscular dystrophy by restoring normal blood flow to muscles affected by the genetic disorder.
Medical research
Nov 08, 2012 |
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The HOIL1 gene: The cause of a new rare disease
The researcher Capucine Picard, working with the team from Inserm unit 980 "Human genetics and infections diseases"/Université Paris Descartes under the leadership of Jean-Laurent Casanova, along with researchers from a ...
Immunology
Nov 01, 2012 |
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About face: Long-ignored segments of DNA play role in early stages of face development
(Medical Xpress)—The human face is a fantastically intricate thing. The billions of people on the planet have faces that are individually recognizable because each has subtle differences in its folds and ...
Genetics
Oct 22, 2012 |
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Study shows evidence that transplanted neural stem cells produced myelin
A Phase I clinical trial led by investigators from the University of California, San Francisco and sponsored by Stem Cells Inc., showed that neural stem cells successfully engrafted into the brains of patients and appear ...
Medical research
Oct 10, 2012 |
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Scientists discover gene behind rare disorders
Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Genetics
Oct 09, 2012 |
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Breakthrough study identifies trauma switch
Researchers from the University of Exeter Medical School have for the first time identified the mechanism that protects us from developing uncontrollable fear.
Neuroscience
Oct 05, 2012 |
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Boosting natural marijuana-like brain chemicals treats fragile X syndrome symptoms
American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.
Autism spectrum disorders
Sep 25, 2012 |
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BPA harms human reproduction by damaging chromosomes, disrupting egg development
A Washington State University researcher has found new evidence that the plastic additive BPA can disrupt women's reproductive systems, causing chromosome damage, miscarriages and birth defects.
Medical research
Sep 24, 2012 |
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New study documents women's experiences with chromosome abnormalities found in new prenatal test
(Medical Xpress)—We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers ...
Genetics
Sep 21, 2012 |
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Scientists map the genomic blueprint of the heart
Scientists at the Gladstone Institutes have revealed the precise order and timing of hundreds of genetic "switches" required to construct a fully functional heart from embryonic heart cells—providing new ...
Medical research
Sep 13, 2012 |
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Researchers use gene therapy to restore sense of smell in mice
(Medical Xpress)—A team of scientists from Johns Hopkins and other institutions report that restoring tiny, hair-like structures to defective cells in the olfactory system of mice is enough to restore a ...
Medical research
Sep 11, 2012 |
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Gene therapy restores sense of smell, may aid research into other diseases caused by cilia defects
Scientists have restored the sense of smell in mice through gene therapy for the first time—a hopeful sign for people who can't smell anything from birth or lose it due to disease.
Medical research
Sep 02, 2012 |
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Too much protein HUWE1 causes intellectual disability
Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show ...
Genetics
Aug 31, 2012 |
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