History of Canavan
- Last Updated: Monday, 19 May 2014 15:47
The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan.
In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. This discovery led to carrier screening and prenatal testing for the disease.