Discovery helps explain how children develop rare, fatal disease
One of 100,000 children is born with Menkes disease, a genetic disorder that affects the body's ability to properly absorb copper from food and leads to neurodegeneration, seizures, impaired movement, stunted ...
Medical research
Apr 30, 2013 |
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Rare, lethal childhood disease tracked to protein
A team of international researchers led by Northwestern Medicine scientists has identified how a defective protein plays a central role in a rare, lethal childhood disease known as Giant Axonal Neuropathy, or GAN. The finding ...
Medical research
Apr 29, 2013 |
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New approaches in treating complicated childhood polycystic kidney disease
A collaborative team of physician-scientists at the Medical College of Wisconsin (MCW) and Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat ...
Diseases, Conditions, Syndromes
Apr 26, 2013 |
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Therapy helps regenerate child's undeveloped bones
Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her ...
Diseases, Conditions, Syndromes
Apr 24, 2013 |
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Identification of specific genetic variants associated with common eye disorders could improve treatment and prevention
The eye is covered by a clear and protective layer called the cornea, and abnormal thickness of the cornea can result in eye disease. An international research team including Chiea Chuen Khor of the A*STAR ...
Genetics
Apr 24, 2013 |
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Researchers link facial structure to kidney disease
(Medical Xpress)—Researchers at King's College London's Dental Institute have shown that people with a certain kind of kidney disease have characteristic facial features that may reflect the genetic mutation ...
Diseases, Conditions, Syndromes
Apr 24, 2013 |
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Epigenetic changes shed light on biological mechanism of autism
Scientists from King's College London have identified patterns of epigenetic changes involved in autism spectrum disorder (ASD) by studying genetically identical twins who differ in autism traits. The study, published in ...
Autism spectrum disorders
Apr 23, 2013 |
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Fight control: Researchers link individual neurons to regulation of aggressive behavior in flies
(Medical Xpress)—Scientists have long pondered the roots of aggression—and ways to temper it. Now, new research is beginning to illuminate the cellular-level circuitry responsible for modulating aggression ...
Neuroscience
Apr 19, 2013 |
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Researchers untangle molecular pathology of giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation ...
Neuroscience
Apr 15, 2013 |
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Study identifies new gene variations associated with heart rate
Through a collaborative genome-wide study on individuals, researchers have discovered 14 new genetic variations that are associated with heart rate. Since heart rate is a marker of cardiovascular health, these findings could ...
Genetics
Apr 14, 2013 |
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Do drugs for bipolar disorder 'normalize' brain gene function? Study suggests so
Every day, millions of people with bipolar disorder take medicines that help keep them from swinging into manic or depressed moods. But just how these drugs produce their effects is still a mystery.
Psychology & Psychiatry
Apr 11, 2013 |
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'Unknown' neurological disorder often incorrectly diagnosed
The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...
Neuroscience
Apr 10, 2013 |
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Researchers identify mutation that causes short-sightedness and hearing loss
(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to ...
Genetics
Apr 08, 2013 |
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New genetic evidence suggests continuum among neurodevelopmental and psychiatric disorders
A paper published this month in the prestigious medical journal The Lancet Neurology suggests that a broad spectrum of developmental and psychiatric disorders, ranging from autism and intellectual disability to schizophrenia, should ...
Genetics
Apr 05, 2013 |
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Autism linked to increased genetic change in regions of genome instability
(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published ...
Autism spectrum disorders
Apr 03, 2013 |
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