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Gene found for rare disorder may reveal new pathway in mental retardation
02-05-2007 · EurekAlert!Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway that may have a broader role during human development, potentially in cases of mental retardation and autism. An international team of researchers identified two genes that contribute to Cornelia deLange syndrome, a multisystem genetic disease that affects an estimated one in 10,000 children.
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Keywords: gene, rare, disorder, reveal, pathway, mental, retardation
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Nationwide Children's Hospital announced today its involvement in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria, a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation. Currently, there are eight patients enrolled in the expanded access program at Nationwide Children's.
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- Angelman syndrome deficits rescued in mice
02-08-2007 · EurekAlert!
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- Fragile X retardation syndrome corrected in mice
12-19-2007 · EurekAlert!
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09-17-2007 · EurekAlert!
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- Cambridge led team discovers gene mutation which prevents carriers from feeling pain
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- Scientists reveal secrets of Homer's Cyclops to help people with Holoprosencephaly
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