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:
- rs28940279, also known as E285A, A854C and c.854A>C (risk allele is C)
- rs28940574, also known as A305E, C914A and c.914C>A (risk allele is A)
- rs12948217, also known as Y231X, C693A, and c.693C>A (risk allele is A)
- rs63751297, also known as c.433-2A>G (risk allele is G)
- rs104894553 a mild form
Testing for the first 4 mutations listed above is reported to cover 99% of the mutations found in Ashkenazi Jews individuals and 55% in other ethnicities.
A gene therapy approach seem promising. http://seattletimes.com/html/nationworld/2019939252_genetherapyxml.html