1. Canavan Disease
By Lauren Nieman

2. Genetic Disorders-
Genetic disorders are illness’ caused by abnormalities in genes or chromosomes, especially in a condition that is present before birth. Most genetic disorders are rare and effect only one person in every several thousand or million. Some genetic disorders are passed down from parent genes but others are almost always caused by new mutations or changes to the DNA.

3. History of the Canavan Disease
Canavan disease was first discovered in 1931 by Myrtelle Canavan. The discovery of the gene for Canavan Disease created controversy about the disease. In 1987, the Greenburg's, a family with two children affected with Canavan Disease donated tissue samples to Dr. Reuben Matalon, a researcher looking for the Canavan gene. Dr. Matalon successfully identified the gene in 1993

4. General information
Of Canavan Disease

5. General information
Canavan disease is also known as Canavan- Van Bogaert- Bertrand disease, aspartoacylase deficiency or aminoacylase two deficiency.
Canavan Disease is an autosomal (not sex chromosome) recessive degenerative disorder that causes damage to nerve cells in the brain. One of the most degenerative cerebral diseases of infancy.
Canavan Disease is in the group of genetic disorders called leukodystrophies- dysfunction of the white matter of the brain.

6. General information
Canavan Disease is inherited through family bloodlines and is more common in the Ashkenazi Jews than in the general population.
One out of every forty Ashkenazi Jewish person is a carrier of the gene
Canavan Disease is the lack of enzyme, (large biological molecules responsible for metabolism) aspartoacylase, and leads to the buildup of material known as N-acetyl aspartic acid (second most connected molecule in the brain, which causes the white matter in the brain to break down.)

7. Loss of previously acquired motor skills
symptoms
Symptoms of Canavan Disease usually begin in the first year of a child’s life. Symptoms include:
Loss of previously acquired motor skills
Abnormal posture with flexed arms and straight legs
Backflow of food material into the nose (nasal regurgitation)
Feeding problems
Increasing of head size
Lack of head control
Poor muscle tone (especially in the neck)

8. Poor visual tracking or blindness
Symptoms (continued)
Poor visual tracking or blindness
Reflux (when stomachs contents leak backward from the stomach to the esophagus after eating)
Seizures
Severe intellectual disability
Swallowing difficulties

10. With Canavan Disease the central nervous system breaks down.
Complications
With Canavan Disease the central nervous system breaks down.
Patients most likely will become disabled
Death often happens before eighteen months of age, though some patients live until they are teenagers or, rarely, young adults.

11. Normal child’s brain, compared to that of a child with Canavan Disease

12. There is no known cure for Canavan Disease.
Treatment
There is no known cure for Canavan Disease.
There is also no standard course of treatment.
Treatment is sympathetic and supportive, but there is an experimental treatment using Lithium Citrate.
When a person has canavan disease, their N- acetylasparate are chronically elevated. The Lithium Citrate decreased levels of N-acetylasparate. When tested on humans the subject’s symptoms started to become less severe but after two weeks without the Lithium they went into withdrawal.

13. Treatment (continued)
There are experimental trials of gene therapy.
A healthy gene is cloned to take over for the defective gene that causes canavan disease. This method can improve the life of a patient without long-term effects on five years follow- up

14. In research for Canavan Disease gene therapy is used.
Gene therapy is the use of DNA as a pharmaceutical agent to treat disease.
The most common form of gene therapy involves using DNA that encodes a functional, therapeutic gene to replace the mutated one.
In research for Canavan Disease gene therapy is used.
At Canavan Research Illinois there was a trial led by the worlds leading reseacher in gene therapy for Canavan Disease (Paola Leone, P.h. D. Dr. Leone)

15. Gene therapy (continued)
None of the children who have been treated so far have experienced any side effects and are released from hospital days after surgery.
Several of the children treated have experienced substantial improvements.

16. Bibliography