News tagged with autosomal recessive genetic disease
New drug holds out promise of normal diet for sufferers of devastating PKU genetic disease
Medicine & Health / Medications
Jan 14, 2009 |
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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 ...
Search results for autosomal recessive genetic disease
Variant form of amyloid beta hinders amyloidogenesis, development of Alzheimer's disease
Medicine & Health / Neuroscience
Mar 12, 2009 |
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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 ...
Gene hunters target child kidney failure
May 14, 2009 |
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Researchers are zeroing in on the genetic abnormalities predisposing to vesicoureteric reflux (VUR), one of the most common causes of urinary tract infections and kidney failure in children, reports a study in an upcoming ...
Cats' eye diseases genetically linked to diseases in humans
Mar 04, 2009 |
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About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness. Now, a University of Missouri researcher has identified a genetic ...
Discovery of genetic defect may lead to better treatments for common gut diseases
Oct 08, 2009 |
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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 ...
Gene therapy slows progression of fatal neurodegenerative disease in children
May 13, 2008 |
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Gene therapy to replace the faulty CLN2 gene, which causes a neurodegenerative disease that is fatal by age 8-12 years, was able to slow significantly the rate of neurologic decline in treated children, according to a paper ...
Cystic fibrosis testing -- next steps
Apr 27, 2009 |
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Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.
Researchers propose new ultrasound screening criteria for diagnosing polycystic kidney disease
Oct 22, 2008 |
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Modification of the current screening criteria are needed for diagnosing patients with autosomal dominant polycystic disease (ADPKD), according to a study appearing in the January 2009 issue of the Journal of the American So ...
New developments in reproductive medicine
Aug 31, 2009 |
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Three out of ten women who undergo polar body diagnosis go on to have a child. The extensive technique of polar body analysis (PBA) is described by researchers in reproductive medicine at Lübeck, Germany, in an article in ...
The gene for day blindness in the dachshund has been found
May 27, 2009 |
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A PhD project by Anne Caroline Wiik has discovered the genetic cause of day blindness or "cone-rod dystrophy” in the wire-haired dachshund. The disease was discovered in two litter mates in 1999 and has since ...
Researchers develop new genetic method and identify novel genes for schizophrenia
Dec 03, 2007 |
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Scientists at the Zucker Hillside Hospital campus of the Feinstein Institute for Medical Research have identified nine genetic markers that can increase a person’s risk for schizophrenia. In a study published this week in ...
List of search results for autosomal recessive genetic disease
