Vanessa Rangel-Miller of Invitae talks about the Canavan Disease Patient Insight Network which is a registry that can be used by Canavan families to share information and by researchers to conduct research.
Canavan disease is a rare inherited genetic disorder that disrupts the synthesis of myelin sheath around neuronal axons.
Infants with Canavan disease typically appear normal for the first few months of life but symptoms begin to appear usually by the 3rd to 5th month. These infants typically also have weak muscle tone (hypotonia), unusually large head size (macrocephaly), irritability, abnormal posture, and intellectual disability. Feeding and swallowing difficulties, seizures, paralysis, blindness, hearing loss, and sleep disturbances may also develop.
Death usually occurs before the age 10, although some children may survive into their teens and twenties. There is currently no treatment or cure for this condition.