News tagged with autosomal recessive genetic disease
Burmese cats to benefit from genetic test for newly discovered mutation
Burmese cats can inherit a muscle weakness, called Burmese hypokalaemia, which is caused by low levels of blood potassium.
May 24, 2012 |
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Cystic fibrosis testing -- next steps
Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.
Medicine & Health / Diseases, Conditions, Syndromes
Apr 27, 2009 |
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New drug holds out promise of normal diet for sufferers of devastating PKU genetic disease
Imagine being forced to say no to a child crying for more food at supper. Sadly, Margie Fischer doesn't have to imagine it; that was normal life at her family's dinner table for years. Her daughter Maggie, now 20, suffers ...
Medicine & Health / Medications
Jan 14, 2009 |
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Search results for autosomal recessive genetic disease
Innovative screening method identifies possible new treatment for fatal childhood disease
Many genes that cause human diseases have parallel genes in other organisms, including yeast. Now Columbia University researchers have used an innovative yeast-based screening method to identify a possible treatment for the ...
Apr 18, 2011 |
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Trace amounts of microbe-killing molecules predict chronic granulomatous disease survival
Investigators at the National Institutes of Health have observed that the survival rate of people with a rare immunodeficiency disease called chronic granulomatous disease (CGD) is greatly improved when even very low levels ...
Medicine & Health / Medical research
Dec 30, 2010 |
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Researchers fight genetic killer of infants and toddlers
Researchers at the University of Utah are making strides in understanding and combating a motor neuron disease known as Spinal Muscular Atrophy. The spinal muscular atrophies are a group of inherited diseases that cause progressive ...
Medicine & Health / Diseases, Conditions, Syndromes
Jun 17, 2010 |
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Researchers find that 2 proteins are key for normal-sized brains
In work that may one day correct or prevent genetic conditions tied to smaller-than-normal brains and shed light on the evolution of human head size, researchers at MIT's Picower Institute for Learning and Memory analyzed ...
Medicine & Health / Neuroscience
May 12, 2010 |
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Gene therapy cures canines of inherited form of day blindness
Veterinary ophthalmology researchers from the University of Pennsylvania have used gene therapy to restore retinal cone function and day vision in two canine models of congenital achromatopsia, also called rod monochromacy ...
Apr 21, 2010 |
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Is prenatal screening for rare diseases like spinal muscular atrophy too costly?
Spinal Muscular Atrophy (SMA) is one of many serious disorders for which prenatal testing is available. SMA affects approximately 1 in 10,000 live births and is the leading genetic cause of infant mortality and the second ...
Medicine & Health / Diseases, Conditions, Syndromes
Mar 08, 2010 |
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New genetic test for cause of intellectual disability to be launched
TORONTO - For the second time in as many months the Centre for Addiction and Mental Health (CAMH) has signed a licensing agreement with US-based Athena Diagnostics Inc. to market a new genetic test.
Feb 26, 2010 |
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Study finds screening for spinal muscular atrophy not cost effective
In a study to be presented today at the Society for Maternal-Fetal Medicine's (SMFM) annual meeting, The Pregnancy Meeting, in Chicago, researchers will unveil findings that show that it is not cost effective to screen for ...
Feb 05, 2010 |
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Discovery of genetic defect may lead to better treatments for common gut diseases
New findings related to an uncommon genetic disorder may impact the diagnosis and treatment of inflammatory bowel disease (IBD), the most common chronic gastrointestinal illness in children and teens. Two ...
Oct 08, 2009 |
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Variant form of amyloid beta hinders amyloidogenesis, development of Alzheimer's disease
Alzheimer's disease causes misfolding and aggregation of a protein fragment known as amyloid beta and its deposition as plaques in the brain. This process triggers a cascade of event that leads to neurodegeneration. A new ...
Medicine & Health / Neuroscience
Mar 12, 2009 |
4.5 / 5 (2) |
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List of search results for autosomal recessive genetic disease
