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Related to Canavan disease: Alexander disease
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The report provides a snapshot of the global therapeutic landscape of Canavan Disease
Canavan disease causes a child's brain to degenerate into spongy tissue riddled with microscopic fluid-filled spaces.
The nurse and three midwives should have performed genetic testing once they learned the patient was Jewish to determine if she was a carrier of Canavan disease.
Research to identify the disease gene was spearheaded and funded by families (and organizations established by families) affected by Canavan disease.
There is no cure for Canavan disease or a standard course of therapy other than symptomatic and supportive treatment.
In the 1980s, there was no test to identify a carrier of the recessive gene for Canavan disease and no test to identify a fetus with the disease.
In perhaps the most egregious case, Miami Children's Hospital sent out letters to genetics laboratories nationwide in 1998, announcing that it had been granted a patent for the genetic defect that causes Canavan disease.
Two years ago, in another well-known case, the Miami Children's Hospital received a patent on a gene for the rare Canavan disease that it had identified in one of its patients, Jonathan Greenberg.
Concerning gene therapy, Alain Fischer (Hypital Necker, Paris, France) presented his pioneering work, while several others presented on-going trials to treat Canavan disease or blindness.
I was in shock and in a total state of disbelief when we were given the diagnosis of Canavan Disease at nine months.
A typical result of this was that families allowed tissue from children suffering from the fatal Canavan disease to be used for research in the hope of finding a cure.
We learned that children with Canavan Disease continue to deteriorate, never roll-over, walk, or speak.