The History of Canavan
In 1931 Canavan was discovered by Myrtelle Canavan. She did not know much about the disease at this time but in 1993 Reuben Matalon a researcher in Chicago identified the recessive gene. He then made a test for Canavan for parents to have support through counseling.
In Canavan, the 17th chromosome named ASPA (aspartoacylase) is one chromosome responsible for making amino acids. There are more than 55 mutations in this that are known to cause Canavan.