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Canavan disease

From SNPedia

Canavan disease is a rare but severe inherited neurodegenerative disorder known as a leukodystrophy. As the disease progresses, the myelin that makes up the white matter of the brain is destroyed. About one in forty Ashkenazi Jews is a carrier of this genetic disorder. Children who inherit two copies of the gene appear normal at birth, but between three and nine months of age they begin to show symptoms such as lack of muscle control ("floppiness"). These children cannot sit, crawl, or talk, and few live past age 10. The Canavan Foundation provides information on this disease.

SNPS related to Canavan disease include:

A gene therapy approach seem promising. http://seattletimes.com/html/nationworld/2019939252_genetherapyxml.html